Canonical Allele Identifier: CA243263

Gene: TRPM1

Linked Data

• ClinVar Variation Id: 196344
• ClinVar RCV Id: RCV000177155
• dbSNP Id: rs781379511
• gnomAD v4: 15-31070126-C-T
• MyVariant Identifiers: chr15:g.31362329C>T (hg19) ; chr15:g.31070126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31070126C>T , CM000677.2:g.31070126C>T	GRCh38
NC_000015.9:g.31362329C>T , CM000677.1:g.31362329C>T	GRCh37
NC_000015.8:g.29149621C>T	NCBI36
NG_016453.1:g.36596G>A
NG_016453.2:g.96148G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711434.1:c.118G>A	ENSP00000518752.1:p.Glu40Lys
ENST00000397795.7:c.118G>A	ENSP00000380897.2:p.Glu40Lys
ENST00000558445.6:c.235G>A	ENSP00000452946.2:p.Glu79Lys
ENST00000559177.6:c.235G>A	ENSP00000453477.2:p.Glu79Lys
ENST00000559179.2:c.118G>A	ENSP00000453851.1:p.Glu40Lys
ENST00000256552.11:c.184G>A MANE Select	ENSP00000256552.7:p.Glu62Lys
ENST00000256552.10:c.184G>A	ENSP00000256552.6:p.Glu62Lys
ENST00000397795.6:c.118G>A	ENSP00000380897.2:p.Glu40Lys
ENST00000542188.5:c.235G>A	ENSP00000437849.1:p.Glu79Lys
ENST00000558445.5:c.118G>A	ENSP00000452946.1:p.Glu40Lys
ENST00000559177.5:c.118G>A	ENSP00000453477.1:p.Glu40Lys
ENST00000559179.1:c.118G>A	ENSP00000453851.1:p.Glu40Lys
ENST00000560658.5:c.118G>A	ENSP00000454077.1:p.Glu40Lys
NM_001252020.1:c.235G>A	NP_001238949.1:p.Glu79Lys
NM_001252024.1:c.184G>A	NP_001238953.1:p.Glu62Lys
NM_001252030.1:c.118G>A	NP_001238959.1:p.Glu40Lys
NM_002420.5:c.118G>A	NP_002411.3:p.Glu40Lys
NM_001252024.2:c.184G>A MANE Select	NP_001238953.1:p.Glu62Lys
NM_001252030.2:c.118G>A	NP_001238959.1:p.Glu40Lys
NM_002420.6:c.118G>A	NP_002411.3:p.Glu40Lys
NM_001252020.2:c.235G>A	NP_001238949.1:p.Glu79Lys