ClinVar

NM_001382567.1(STIM1):c.1299C>T (p.Ile433=)

Gene:

STIM1:stromal interaction molecule 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 4083323 (on Assembly GRCh38)
• Chr11: 4104553 (on Assembly GRCh37)

Preferred name:

NM_001382567.1(STIM1):c.1299C>T (p.Ile433=)

HGVS:

• NC_000011.10:g.4083323C>T
• NG_016277.1:g.232621C>T
• NM_001277961.3:c.1299C>T
• NM_001277962.2:c.1299C>T
• NM_001382566.1:c.1077C>T
• NM_001382567.1:c.1299C>TMANE SELECT
• NM_001382568.1:c.1320C>T
• NM_001382569.1:c.1164C>T
• NM_001382570.1:c.1071C>T
• NM_001382571.1:c.819C>T
• NM_001382573.1:c.1077C>T
• NM_001382575.1:c.1077C>T
• NM_001382576.1:c.1077C>T
• NM_001382577.1:c.1077C>T
• NM_001382578.1:c.1077C>T
• NM_001382579.1:c.1077C>T
• NM_001382580.1:c.810C>T
• NM_001382581.1:c.810C>T
• NM_003156.4:c.1299C>T
• NP_001264890.1:p.Ile433=
• NP_001264891.1:p.Ile433=
• NP_001369495.1:p.Ile359=
• NP_001369496.1:p.Ile433=
• NP_001369497.1:p.Ile440=
• NP_001369498.1:p.Ile388=
• NP_001369499.1:p.Ile357=
• NP_001369500.1:p.Ile273=
• NP_001369502.1:p.Ile359=
• NP_001369504.1:p.Ile359=
• NP_001369505.1:p.Ile359=
• NP_001369506.1:p.Ile359=
• NP_001369507.1:p.Ile359=
• NP_001369508.1:p.Ile359=
• NP_001369509.1:p.Ile270=
• NP_001369510.1:p.Ile270=
• NP_003147.2:p.Ile433=
• NP_003147.2:p.Ile433=
• LRG_164t1:c.1299C>T
• LRG_164:g.232621C>T
• LRG_164p1:p.Ile433=
• NC_000011.9:g.4104553C>T
• NM_003156.3:c.1299C>T
• NR_168437.1:n.1728C>T
• NR_168438.1:n.1550C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200738706

NCBI 1000 Genomes Browser:

rs200738706

Molecular consequence:

• NR_168437.1:n.1728C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_168438.1:n.1550C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001277961.3:c.1299C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001277962.2:c.1299C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382566.1:c.1077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382567.1:c.1299C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382568.1:c.1320C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382569.1:c.1164C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382570.1:c.1071C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382571.1:c.819C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382573.1:c.1077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382575.1:c.1077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382576.1:c.1077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382577.1:c.1077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382578.1:c.1077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382579.1:c.1077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382580.1:c.810C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382581.1:c.810C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003156.4:c.1299C>T - synonymous variant - [Sequence Ontology: SO:0001819]