Canonical Allele Identifier: CA489345619
Community Standard Title: NM_001252024.2(TRPM1):c.2268C>A (p.Thr756=)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31040166G>T , CM000677.2:g.31040166G>T GRCh38
NC_000015.9:g.31332369G>T , CM000677.1:g.31332369G>T GRCh37
NC_000015.8:g.29119661G>T NCBI36
NG_016453.1:g.66556C>A
NG_016453.2:g.126108C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.2268C>A MANE Select NP_001238953.1:p.Thr756=
ENST00000256552.11:c.2268C>A MANE Select ENSP00000256552.7:p.Thr756=
NM_001252020.1:c.2319C>A NP_001238949.1:p.Thr773=
NM_001252020.2:c.2319C>A NP_001238949.1:p.Thr773=
NM_001252024.1:c.2268C>A NP_001238953.1:p.Thr756=
NM_002420.5:c.2202C>A NP_002411.3:p.Thr734=
NM_002420.6:c.2202C>A NP_002411.3:p.Thr734=
ENST00000256552.10:c.2268C>A ENSP00000256552.6:p.Thr756=
ENST00000397795.6:c.2202C>A ENSP00000380897.2:p.Thr734=
ENST00000397795.7:c.2202C>A ENSP00000380897.2:p.Thr734=
ENST00000542188.5:c.2319C>A ENSP00000437849.1:p.Thr773=
ENST00000558445.5:c.2202C>A ENSP00000452946.1:p.Thr734=
ENST00000558445.6:c.2319C>A ENSP00000452946.2:p.Thr773=
ENST00000558768.5:c.1971C>A ENSP00000453119.2:p.Thr657=
ENST00000559177.5:c.428-11690C>A ENSP00000453477.1:n.428-11690C>A
ENST00000559177.6:c.545-11690C>A ENSP00000453477.2:n.545-11690C>A
ENST00000560801.5:c.2019C>A ENSP00000453644.2:n.2019C>A
ENST00000711434.1:c.2202C>A ENSP00000518752.1:p.Thr734=