ClinVar

NM_201253.3(CRB1):c.1533C>T (p.Ala511=)

Gene:

CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197421361 (on Assembly GRCh38)
• Chr1: 197390491 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.1533C>T (p.Ala511=)

HGVS:

• NC_000001.11:g.197421361C>T
• NG_008483.2:g.224900C>T
• NM_001193640.2:c.1197C>T
• NM_001257965.2:c.1326C>T
• NM_001257966.2:c.1533C>T
• NM_201253.3:c.1533C>TMANE SELECT
• NP_001180569.1:p.Ala399=
• NP_001244894.1:p.Ala442=
• NP_001244895.1:p.Ala511=
• NP_957705.1:p.Ala511=
• NC_000001.10:g.197390491C>T
• NM_201253.2:c.1533C>T
• NP_957705.1:p.(=)
• NR_047563.2:n.1694C>T
• NR_047564.2:n.1694C>T
• p.Ala511Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs142224492

NCBI 1000 Genomes Browser:

rs142224492

Molecular consequence:

• NR_047563.2:n.1694C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.1694C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.1197C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257965.2:c.1326C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257966.2:c.1533C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201253.3:c.1533C>T - synonymous variant - [Sequence Ontology: SO:0001819]