Canonical Allele Identifier: CA7452898
Community Standard Title: NM_001252024.2(TRPM1):c.602A>T (p.Asp201Val)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31067079T>A , CM000677.2:g.31067079T>A GRCh38
NC_000015.9:g.31359282T>A , CM000677.1:g.31359282T>A GRCh37
NC_000015.8:g.29146574T>A NCBI36
NG_016453.1:g.39643A>T
NG_016453.2:g.99195A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.602A>T MANE Select NP_001238953.1:p.Asp201Val
ENST00000256552.11:c.602A>T MANE Select ENSP00000256552.7:p.Asp201Val
NM_001252020.1:c.653A>T NP_001238949.1:p.Asp218Val
NM_001252020.2:c.653A>T NP_001238949.1:p.Asp218Val
NM_001252024.1:c.602A>T NP_001238953.1:p.Asp201Val
NM_002420.5:c.536A>T NP_002411.3:p.Asp179Val
NM_002420.6:c.536A>T NP_002411.3:p.Asp179Val
ENST00000256552.10:c.602A>T ENSP00000256552.6:p.Asp201Val
ENST00000397795.6:c.536A>T ENSP00000380897.2:p.Asp179Val
ENST00000397795.7:c.536A>T ENSP00000380897.2:p.Asp179Val
ENST00000542188.5:c.653A>T ENSP00000437849.1:p.Asp218Val
ENST00000558445.5:c.536A>T ENSP00000452946.1:p.Asp179Val
ENST00000558445.6:c.653A>T ENSP00000452946.2:p.Asp218Val
ENST00000558768.5:c.323A>T ENSP00000453119.2:p.Asp108Val
ENST00000559177.5:c.427+800A>T ENSP00000453477.1:n.427+800A>T
ENST00000559177.6:c.544+800A>T ENSP00000453477.2:n.544+800A>T
ENST00000560658.5:c.536A>T ENSP00000454077.1:p.Asp179Val
ENST00000560801.5:c.323A>T ENSP00000453644.2:p.Asp108Val
ENST00000711434.1:c.536A>T ENSP00000518752.1:p.Asp179Val