Canonical Allele Identifier: CA7453060

Gene: TRPM1

Linked Data

• ClinVar Variation Id: 315537
• ClinVar RCV Id: RCV000278189
• dbSNP Id: rs754980973
• ExAC: 15:31362322 C / G
• gnomAD v2: 15-31362322-C-G
• gnomAD v3: 15-31070119-C-G
• gnomAD v4: 15-31070119-C-G
• MyVariant Identifiers: chr15:g.31362322C>G (hg19) ; chr15:g.31070119C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31070119C>G , CM000677.2:g.31070119C>G	GRCh38
NC_000015.9:g.31362322C>G , CM000677.1:g.31362322C>G	GRCh37
NC_000015.8:g.29149614C>G	NCBI36
NG_016453.1:g.36603G>C
NG_016453.2:g.96155G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000711434.1:c.125G>C	ENSP00000518752.1:p.Trp42Ser
ENST00000397795.7:c.125G>C	ENSP00000380897.2:p.Trp42Ser
ENST00000558445.6:c.242G>C	ENSP00000452946.2:p.Trp81Ser
ENST00000559177.6:c.242G>C	ENSP00000453477.2:p.Trp81Ser
ENST00000559179.2:c.125G>C	ENSP00000453851.1:p.Trp42Ser
ENST00000256552.11:c.191G>C MANE Select	ENSP00000256552.7:p.Trp64Ser
ENST00000256552.10:c.191G>C	ENSP00000256552.6:p.Trp64Ser
ENST00000397795.6:c.125G>C	ENSP00000380897.2:p.Trp42Ser
ENST00000542188.5:c.242G>C	ENSP00000437849.1:p.Trp81Ser
ENST00000558445.5:c.125G>C	ENSP00000452946.1:p.Trp42Ser
ENST00000559177.5:c.125G>C	ENSP00000453477.1:p.Trp42Ser
ENST00000559179.1:c.125G>C	ENSP00000453851.1:p.Trp42Ser
ENST00000560658.5:c.125G>C	ENSP00000454077.1:p.Trp42Ser
NM_001252020.1:c.242G>C	NP_001238949.1:p.Trp81Ser
NM_001252024.1:c.191G>C	NP_001238953.1:p.Trp64Ser
NM_001252030.1:c.125G>C	NP_001238959.1:p.Trp42Ser
NM_002420.5:c.125G>C	NP_002411.3:p.Trp42Ser
NM_001252024.2:c.191G>C MANE Select	NP_001238953.1:p.Trp64Ser
NM_001252030.2:c.125G>C	NP_001238959.1:p.Trp42Ser
NM_002420.6:c.125G>C	NP_002411.3:p.Trp42Ser
NM_001252020.2:c.242G>C	NP_001238949.1:p.Trp81Ser