Canonical Allele Identifier: CA391535462
Community Standard Title: NM_001252024.2(TRPM1):c.282T>A (p.Tyr94Ter)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31068090A>T , CM000677.2:g.31068090A>T GRCh38
NC_000015.9:g.31360293A>T , CM000677.1:g.31360293A>T GRCh37
NC_000015.8:g.29147585A>T NCBI36
NG_016453.1:g.38632T>A
NG_016453.2:g.98184T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.282T>A MANE Select NP_001238953.1:p.Tyr94Ter
ENST00000256552.11:c.282T>A MANE Select ENSP00000256552.7:p.Tyr94Ter
NM_001252020.1:c.333T>A NP_001238949.1:p.Tyr111Ter
NM_001252020.2:c.333T>A NP_001238949.1:p.Tyr111Ter
NM_001252024.1:c.282T>A NP_001238953.1:p.Tyr94Ter
NM_002420.5:c.216T>A NP_002411.3:p.Tyr72Ter
NM_002420.6:c.216T>A NP_002411.3:p.Tyr72Ter
ENST00000256552.10:c.282T>A ENSP00000256552.6:p.Tyr94Ter
ENST00000397795.6:c.216T>A ENSP00000380897.2:p.Tyr72Ter
ENST00000397795.7:c.216T>A ENSP00000380897.2:p.Tyr72Ter
ENST00000542188.5:c.333T>A ENSP00000437849.1:p.Tyr111Ter
ENST00000558445.5:c.216T>A ENSP00000452946.1:p.Tyr72Ter
ENST00000558445.6:c.333T>A ENSP00000452946.2:p.Tyr111Ter
ENST00000558768.5:c.3T>A ENSP00000453119.2:p.Tyr1Ter
ENST00000559177.5:c.216T>A ENSP00000453477.1:p.Tyr72Ter
ENST00000559177.6:c.333T>A ENSP00000453477.2:p.Tyr111Ter
ENST00000560658.5:c.216T>A ENSP00000454077.1:p.Tyr72Ter
ENST00000560801.5:c.3T>A ENSP00000453644.2:p.Tyr1Ter
ENST00000711434.1:c.216T>A ENSP00000518752.1:p.Tyr72Ter