Canonical Allele Identifier: CA202314

Gene: TRPM1

Linked Data

• ClinVar Variation Id: 196343
• ClinVar RCV Id: RCV000177154 ; RCV000337949 ; RCV001522998
• dbSNP Id: rs2241493
• ExAC: 15:31362352 C / T
• gnomAD v2: 15-31362352-C-T
• gnomAD v3: 15-31070149-C-T
• gnomAD v4: 15-31070149-C-T
• MyVariant Identifiers: chr15:g.31362352C>T (hg19) ; chr15:g.31362352_31362355delinsTTTT (hg19) ; chr15:g.31070149C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31070149C>T , CM000677.2:g.31070149C>T	GRCh38
NC_000015.9:g.31362352C>T , CM000677.1:g.31362352C>T	GRCh37
NC_000015.8:g.29149644C>T	NCBI36
NG_016453.1:g.36573G>A
NG_016453.2:g.96125G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711434.1:c.95G>A	ENSP00000518752.1:p.Ser32Asn
ENST00000397795.7:c.95G>A	ENSP00000380897.2:p.Ser32Asn
ENST00000558445.6:c.212G>A	ENSP00000452946.2:p.Ser71Asn
ENST00000559177.6:c.212G>A	ENSP00000453477.2:p.Ser71Asn
ENST00000559179.2:c.95G>A	ENSP00000453851.1:p.Ser32Asn
ENST00000256552.11:c.161G>A MANE Select	ENSP00000256552.7:p.Ser54Asn
ENST00000256552.10:c.161G>A	ENSP00000256552.6:p.Ser54Asn
ENST00000397795.6:c.95G>A	ENSP00000380897.2:p.Ser32Asn
ENST00000542188.5:c.212G>A	ENSP00000437849.1:p.Ser71Asn
ENST00000558445.5:c.95G>A	ENSP00000452946.1:p.Ser32Asn
ENST00000559177.5:c.95G>A	ENSP00000453477.1:p.Ser32Asn
ENST00000559179.1:c.95G>A	ENSP00000453851.1:p.Ser32Asn
ENST00000560658.5:c.95G>A	ENSP00000454077.1:p.Ser32Asn
NM_001252020.1:c.212G>A	NP_001238949.1:p.Ser71Asn
NM_001252024.1:c.161G>A	NP_001238953.1:p.Ser54Asn
NM_001252030.1:c.95G>A	NP_001238959.1:p.Ser32Asn
NM_002420.5:c.95G>A	NP_002411.3:p.Ser32Asn
NM_001252024.2:c.161G>A MANE Select	NP_001238953.1:p.Ser54Asn
NM_001252030.2:c.95G>A	NP_001238959.1:p.Ser32Asn
NM_002420.6:c.95G>A	NP_002411.3:p.Ser32Asn
NM_001252020.2:c.212G>A	NP_001238949.1:p.Ser71Asn