Canonical Allele Identifier: CA7452635
Community Standard Title: NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31060544C>T , CM000677.2:g.31060544C>T GRCh38
NC_000015.9:g.31352747C>T , CM000677.1:g.31352747C>T GRCh37
NC_000015.8:g.29140039C>T NCBI36
NG_016453.1:g.46178G>A
NG_016453.2:g.105730G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.1263G>A MANE Select NP_001238953.1:p.Pro421=
ENST00000256552.11:c.1263G>A MANE Select ENSP00000256552.7:p.Pro421=
NM_001252020.1:c.1314G>A NP_001238949.1:p.Pro438=
NM_001252020.2:c.1314G>A NP_001238949.1:p.Pro438=
NM_001252024.1:c.1263G>A NP_001238953.1:p.Pro421=
NM_002420.5:c.1197G>A NP_002411.3:p.Pro399=
NM_002420.6:c.1197G>A NP_002411.3:p.Pro399=
ENST00000256552.10:c.1263G>A ENSP00000256552.6:p.Pro421=
ENST00000397795.6:c.1197G>A ENSP00000380897.2:p.Pro399=
ENST00000397795.7:c.1197G>A ENSP00000380897.2:p.Pro399=
ENST00000542188.5:c.1314G>A ENSP00000437849.1:p.Pro438=
ENST00000558070.1:n.347G>A
ENST00000558445.5:c.1197G>A ENSP00000452946.1:p.Pro399=
ENST00000558445.6:c.1314G>A ENSP00000452946.2:p.Pro438=
ENST00000558768.5:c.966G>A ENSP00000453119.2:p.Pro322=
ENST00000559177.5:c.427+7335G>A ENSP00000453477.1:n.427+7335G>A
ENST00000559177.6:c.544+7335G>A ENSP00000453477.2:n.544+7335G>A
ENST00000560658.5:c.*324G>A ENSP00000454077.1:n.*324G>A
ENST00000560801.5:c.1014G>A ENSP00000453644.2:n.1014G>A
ENST00000711434.1:c.1197G>A ENSP00000518752.1:p.Pro399=