ClinVar

NM_001032283.3(TMPO):c.13C>T (p.Leu5=)

Genes:

TMPO-AS1:TMPO antisense RNA 1 [Gene - HGNC]
TMPO:thymopoietin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.1

Genomic location:

• Chr12: 98515880 (on Assembly GRCh38)
• Chr12: 98909658 (on Assembly GRCh37)

Preferred name:

NM_001032283.3(TMPO):c.13C>T (p.Leu5=)

HGVS:

• NC_000012.12:g.98515880C>T
• NG_021393.1:g.5308C>T
• NM_001032283.3:c.13C>TMANE SELECT
• NM_001032284.3:c.13C>T
• NM_001307975.2:c.13C>T
• NM_003276.2:c.13C>T
• NP_001027454.1:p.Leu5=
• NP_001027455.1:p.Leu5=
• NP_001294904.1:p.Leu5=
• NP_003267.1:p.Leu5=
• LRG_443t2:c.13C>T
• LRG_443:g.5308C>T
• LRG_443p2:p.Leu5=
• NC_000012.11:g.98909658C>T
• NR_027157.1:n.254G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs149067616

NCBI 1000 Genomes Browser:

rs149067616

Molecular consequence:

• NR_027157.1:n.254G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001032283.3:c.13C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001032284.3:c.13C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001307975.2:c.13C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003276.2:c.13C>T - synonymous variant - [Sequence Ontology: SO:0001819]