Canonical Allele Identifier: CA7451582
Community Standard Title: NM_001252024.2(TRPM1):c.4755T>C (p.Ile1585=)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31001945A>G , CM000677.2:g.31001945A>G GRCh38
NC_000015.9:g.31294148A>G , CM000677.1:g.31294148A>G GRCh37
NC_000015.8:g.29081440A>G NCBI36
NG_016453.1:g.104777T>C
NG_016453.2:g.164329T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.4755T>C MANE Select NP_001238953.1:p.Ile1585=
ENST00000256552.11:c.4755T>C MANE Select ENSP00000256552.7:p.Ile1585=
NM_001252020.1:c.4806T>C NP_001238949.1:p.Ile1602=
NM_001252020.2:c.4806T>C NP_001238949.1:p.Ile1602=
NM_001252024.1:c.4755T>C NP_001238953.1:p.Ile1585=
NM_002420.5:c.4689T>C NP_002411.3:p.Ile1563=
NM_002420.6:c.4689T>C NP_002411.3:p.Ile1563=
ENST00000256552.10:c.4755T>C ENSP00000256552.6:p.Ile1585=
ENST00000397795.6:c.4689T>C ENSP00000380897.2:p.Ile1563=
ENST00000397795.7:c.4689T>C ENSP00000380897.2:p.Ile1563=
ENST00000542188.5:c.4806T>C ENSP00000437849.1:p.Ile1602=
ENST00000558445.6:c.4806T>C ENSP00000452946.2:p.Ile1602=
ENST00000558768.5:c.4458T>C ENSP00000453119.2:p.Ile1486=
ENST00000559177.6:c.2151T>C ENSP00000453477.2:p.Ile717=
ENST00000560801.5:c.4331T>C ENSP00000453644.2:n.4331T>C
ENST00000711434.1:c.4707T>C ENSP00000518752.1:p.Ile1569=