Canonical Allele Identifier: CA7451844
Community Standard Title: NM_001252024.2(TRPM1):c.3563A>T (p.His1188Leu)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31026205T>A , CM000677.2:g.31026205T>A GRCh38
NC_000015.9:g.31318408T>A , CM000677.1:g.31318408T>A GRCh37
NC_000015.8:g.29105700T>A NCBI36
NG_016453.1:g.80517A>T
NG_016453.2:g.140069A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.3563A>T MANE Select NP_001238953.1:p.His1188Leu
ENST00000256552.11:c.3563A>T MANE Select ENSP00000256552.7:p.His1188Leu
NM_001252020.1:c.3614A>T NP_001238949.1:p.His1205Leu
NM_001252020.2:c.3614A>T NP_001238949.1:p.His1205Leu
NM_001252024.1:c.3563A>T NP_001238953.1:p.His1188Leu
NM_002420.5:c.3497A>T NP_002411.3:p.His1166Leu
NM_002420.6:c.3497A>T NP_002411.3:p.His1166Leu
ENST00000256552.10:c.3563A>T ENSP00000256552.6:p.His1188Leu
ENST00000397795.6:c.3497A>T ENSP00000380897.2:p.His1166Leu
ENST00000397795.7:c.3497A>T ENSP00000380897.2:p.His1166Leu
ENST00000542188.5:c.3614A>T ENSP00000437849.1:p.His1205Leu
ENST00000558445.5:c.3497A>T ENSP00000452946.1:p.His1166Leu
ENST00000558445.6:c.3614A>T ENSP00000452946.2:p.His1205Leu
ENST00000558768.5:c.3266A>T ENSP00000453119.2:p.His1089Leu
ENST00000559177.5:c.842A>T ENSP00000453477.1:p.His281Leu
ENST00000559177.6:c.959A>T ENSP00000453477.2:p.His320Leu
ENST00000560801.5:c.3139A>T ENSP00000453644.2:n.3139A>T
ENST00000711434.1:c.3515A>T ENSP00000518752.1:p.His1172Leu
XR_001751769.1:n.18T>A