Canonical Allele Identifier: CA118067
Gene: TRPM1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6226
ClinVar RCV Id: RCV000006604
dbSNP Id: rs267607141

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31070213G>A , CM000677.2:g.31070213G>A GRCh38
NC_000015.9:g.31362416G>A , CM000677.1:g.31362416G>A GRCh37
NC_000015.8:g.29149708G>A NCBI36
NG_016453.1:g.36509C>T
NG_016453.2:g.96061C>T

Transcript Alleles

HGVS Amino-acid change
NM_001252020.1:c.148C>T VV NP_001238949.1:p.Gln50Ter
NM_001252024.1:c.97C>T VV NP_001238953.1:p.Gln33Ter
NM_001252030.1:c.31C>T VV NP_001238959.1:p.Gln11Ter
NM_002420.5:c.31C>T VV NP_002411.3:p.Gln11Ter
ENST00000256552.10:c.97C>T ENSP00000256552.6:p.Gln33Ter
ENST00000397795.6:c.31C>T ENSP00000380897.2:p.Gln11Ter
ENST00000542188.5:c.148C>T ENSP00000437849.1:p.Gln50Ter
ENST00000558445.5:c.31C>T ENSP00000452946.1:p.Gln11Ter
ENST00000559177.5:c.31C>T ENSP00000453477.1:p.Gln11Ter
ENST00000559179.1:c.31C>T ENSP00000453851.1:p.Gln11Ter
ENST00000560658.5:c.31C>T ENSP00000454077.1:p.Gln11Ter