Canonical Allele Identifier: CA7451669
Community Standard Title: NM_001252024.2(TRPM1):c.4308C>A (p.Pro1436=)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31002392G>T , CM000677.2:g.31002392G>T GRCh38
NC_000015.9:g.31294595G>T , CM000677.1:g.31294595G>T GRCh37
NC_000015.8:g.29081887G>T NCBI36
NG_016453.1:g.104330C>A
NG_016453.2:g.163882C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.4308C>A MANE Select NP_001238953.1:p.Pro1436=
ENST00000256552.11:c.4308C>A MANE Select ENSP00000256552.7:p.Pro1436=
NM_001252020.1:c.4359C>A NP_001238949.1:p.Pro1453=
NM_001252020.2:c.4359C>A NP_001238949.1:p.Pro1453=
NM_001252024.1:c.4308C>A NP_001238953.1:p.Pro1436=
NM_002420.5:c.4242C>A NP_002411.3:p.Pro1414=
NM_002420.6:c.4242C>A NP_002411.3:p.Pro1414=
ENST00000256552.10:c.4308C>A ENSP00000256552.6:p.Pro1436=
ENST00000397795.6:c.4242C>A ENSP00000380897.2:p.Pro1414=
ENST00000397795.7:c.4242C>A ENSP00000380897.2:p.Pro1414=
ENST00000542188.5:c.4359C>A ENSP00000437849.1:p.Pro1453=
ENST00000558445.6:c.4359C>A ENSP00000452946.2:p.Pro1453=
ENST00000558768.5:c.4011C>A ENSP00000453119.2:p.Pro1337=
ENST00000559177.6:c.1704C>A ENSP00000453477.2:p.Pro568=
ENST00000560801.5:c.3884C>A ENSP00000453644.2:n.3884C>A
ENST00000711434.1:c.4260C>A ENSP00000518752.1:p.Pro1420=