Canonical Allele Identifier: CA391546645
Community Standard Title: NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31035551G>A , CM000677.2:g.31035551G>A GRCh38
NC_000015.9:g.31327754G>A , CM000677.1:g.31327754G>A GRCh37
NC_000015.8:g.29115046G>A NCBI36
NG_016453.1:g.71171C>T
NG_016453.2:g.130723C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.2695C>T MANE Select NP_001238953.1:p.Arg899Ter
ENST00000256552.11:c.2695C>T MANE Select ENSP00000256552.7:p.Arg899Ter
NM_001252020.1:c.2746C>T NP_001238949.1:p.Arg916Ter
NM_001252020.2:c.2746C>T NP_001238949.1:p.Arg916Ter
NM_001252024.1:c.2695C>T NP_001238953.1:p.Arg899Ter
NM_002420.5:c.2629C>T NP_002411.3:p.Arg877Ter
NM_002420.6:c.2629C>T NP_002411.3:p.Arg877Ter
ENST00000256552.10:c.2695C>T ENSP00000256552.6:p.Arg899Ter
ENST00000397795.6:c.2629C>T ENSP00000380897.2:p.Arg877Ter
ENST00000397795.7:c.2629C>T ENSP00000380897.2:p.Arg877Ter
ENST00000542188.5:c.2746C>T ENSP00000437849.1:p.Arg916Ter
ENST00000558445.5:c.2629C>T ENSP00000452946.1:p.Arg877Ter
ENST00000558445.6:c.2746C>T ENSP00000452946.2:p.Arg916Ter
ENST00000558768.5:c.2398C>T ENSP00000453119.2:p.Arg800Ter
ENST00000559177.5:c.428-7075C>T ENSP00000453477.1:n.428-7075C>T
ENST00000559177.6:c.545-7075C>T ENSP00000453477.2:n.545-7075C>T
ENST00000560801.5:c.2446C>T ENSP00000453644.2:n.2446C>T
ENST00000711434.1:c.2629C>T ENSP00000518752.1:p.Arg877Ter
XR_001751769.1:n.279-202G>A
XR_932055.1:n.261-19G>A
XR_932056.1:n.90-19G>A
XR_932057.1:n.261-19G>A
XR_932058.1:n.89-202G>A