Canonical Allele Identifier: CA7452166
Community Standard Title: NM_001252024.2(TRPM1):c.2543C>T (p.Ala848Val)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31037739G>A , CM000677.2:g.31037739G>A GRCh38
NC_000015.9:g.31329942G>A , CM000677.1:g.31329942G>A GRCh37
NC_000015.8:g.29117234G>A NCBI36
NG_016453.1:g.68983C>T
NG_016453.2:g.128535C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.2543C>T MANE Select NP_001238953.1:p.Ala848Val
ENST00000256552.11:c.2543C>T MANE Select ENSP00000256552.7:p.Ala848Val
NM_001252020.1:c.2594C>T NP_001238949.1:p.Ala865Val
NM_001252020.2:c.2594C>T NP_001238949.1:p.Ala865Val
NM_001252024.1:c.2543C>T NP_001238953.1:p.Ala848Val
NM_002420.5:c.2477C>T NP_002411.3:p.Ala826Val
NM_002420.6:c.2477C>T NP_002411.3:p.Ala826Val
ENST00000256552.10:c.2543C>T ENSP00000256552.6:p.Ala848Val
ENST00000397795.6:c.2477C>T ENSP00000380897.2:p.Ala826Val
ENST00000397795.7:c.2477C>T ENSP00000380897.2:p.Ala826Val
ENST00000542188.5:c.2594C>T ENSP00000437849.1:p.Ala865Val
ENST00000558445.5:c.2477C>T ENSP00000452946.1:p.Ala826Val
ENST00000558445.6:c.2594C>T ENSP00000452946.2:p.Ala865Val
ENST00000558768.5:c.2246C>T ENSP00000453119.2:p.Ala749Val
ENST00000559177.5:c.428-9263C>T ENSP00000453477.1:n.428-9263C>T
ENST00000559177.6:c.545-9263C>T ENSP00000453477.2:n.545-9263C>T
ENST00000560801.5:c.2294C>T ENSP00000453644.2:n.2294C>T
ENST00000711434.1:c.2477C>T ENSP00000518752.1:p.Ala826Val