Canonical Allele Identifier: CA711978858
Gene: TRPM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2124372
ClinVar RCV Id: RCV003057126
dbSNP Id: rs751427833

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31070229G>A , CM000677.2:g.31070229G>A GRCh38
NC_000015.9:g.31362432G>A , CM000677.1:g.31362432G>A GRCh37
NC_000015.8:g.29149724G>A NCBI36
NG_016453.1:g.36493C>T
NG_016453.2:g.96045C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000711434.1:c.18-3C>T ENSP00000518752.1:n.18-3C>T
ENST00000397795.7:c.18-3C>T ENSP00000380897.2:n.18-3C>T
ENST00000558445.6:c.135-3C>T ENSP00000452946.2:n.135-3C>T
ENST00000559177.6:c.135-3C>T ENSP00000453477.2:n.135-3C>T
ENST00000559179.2:c.18-3C>T ENSP00000453851.1:n.18-3C>T
ENST00000256552.11:c.84-3C>T MANE Select ENSP00000256552.7:n.84-3C>T
ENST00000256552.10:c.84-3C>T ENSP00000256552.6:n.84-3C>T
ENST00000397795.6:c.18-3C>T ENSP00000380897.2:n.18-3C>T
ENST00000542188.5:c.135-3C>T ENSP00000437849.1:n.135-3C>T
ENST00000558445.5:c.18-3C>T ENSP00000452946.1:n.18-3C>T
ENST00000559177.5:c.18-3C>T ENSP00000453477.1:n.18-3C>T
ENST00000559179.1:c.18-3C>T ENSP00000453851.1:n.18-3C>T
ENST00000560658.5:c.18-3C>T ENSP00000454077.1:n.18-3C>T
NM_001252020.1:c.135-3C>T NP_001238949.1:n.135-3C>T
NM_001252024.1:c.84-3C>T NP_001238953.1:n.84-3C>T
NM_001252030.1:c.18-3C>T NP_001238959.1:n.18-3C>T
NM_002420.5:c.18-3C>T NP_002411.3:n.18-3C>T
NM_001252024.2:c.84-3C>T MANE Select NP_001238953.1:n.84-3C>T
NM_001252030.2:c.18-3C>T NP_001238959.1:n.18-3C>T
NM_002420.6:c.18-3C>T NP_002411.3:n.18-3C>T
NM_001252020.2:c.135-3C>T NP_001238949.1:n.135-3C>T