Canonical Allele Identifier: CA7453065

Gene: TRPM1

Linked Data

• dbSNP Id: rs559669435
• ExAC: 15:31362344 C / G
• gnomAD v2: 15-31362344-C-G
• gnomAD v3: 15-31070141-C-G
• gnomAD v4: 15-31070141-C-G
• MyVariant Identifiers: chr15:g.31362344C>G (hg19) ; chr15:g.31070141C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31070141C>G , CM000677.2:g.31070141C>G	GRCh38
NC_000015.9:g.31362344C>G , CM000677.1:g.31362344C>G	GRCh37
NC_000015.8:g.29149636C>G	NCBI36
NG_016453.1:g.36581G>C
NG_016453.2:g.96133G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711434.1:c.103G>C	ENSP00000518752.1:p.Val35Leu
ENST00000397795.7:c.103G>C	ENSP00000380897.2:p.Val35Leu
ENST00000558445.6:c.220G>C	ENSP00000452946.2:p.Val74Leu
ENST00000559177.6:c.220G>C	ENSP00000453477.2:p.Val74Leu
ENST00000559179.2:c.103G>C	ENSP00000453851.1:p.Val35Leu
ENST00000256552.11:c.169G>C MANE Select	ENSP00000256552.7:p.Val57Leu
ENST00000256552.10:c.169G>C	ENSP00000256552.6:p.Val57Leu
ENST00000397795.6:c.103G>C	ENSP00000380897.2:p.Val35Leu
ENST00000542188.5:c.220G>C	ENSP00000437849.1:p.Val74Leu
ENST00000558445.5:c.103G>C	ENSP00000452946.1:p.Val35Leu
ENST00000559177.5:c.103G>C	ENSP00000453477.1:p.Val35Leu
ENST00000559179.1:c.103G>C	ENSP00000453851.1:p.Val35Leu
ENST00000560658.5:c.103G>C	ENSP00000454077.1:p.Val35Leu
NM_001252020.1:c.220G>C	NP_001238949.1:p.Val74Leu
NM_001252024.1:c.169G>C	NP_001238953.1:p.Val57Leu
NM_001252030.1:c.103G>C	NP_001238959.1:p.Val35Leu
NM_002420.5:c.103G>C	NP_002411.3:p.Val35Leu
NM_001252024.2:c.169G>C MANE Select	NP_001238953.1:p.Val57Leu
NM_001252030.2:c.103G>C	NP_001238959.1:p.Val35Leu
NM_002420.6:c.103G>C	NP_002411.3:p.Val35Leu
NM_001252020.2:c.220G>C	NP_001238949.1:p.Val74Leu