Canonical Allele Identifier: CA7452940
Community Standard Title: NM_001252024.2(TRPM1):c.493+13C>T
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31067866G>A , CM000677.2:g.31067866G>A GRCh38
NC_000015.9:g.31360069G>A , CM000677.1:g.31360069G>A GRCh37
NC_000015.8:g.29147361G>A NCBI36
NG_016453.1:g.38856C>T
NG_016453.2:g.98408C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.493+13C>T MANE Select NP_001238953.1:n.493+13C>T
ENST00000256552.11:c.493+13C>T MANE Select ENSP00000256552.7:n.493+13C>T
NM_001252020.1:c.544+13C>T NP_001238949.1:n.544+13C>T
NM_001252020.2:c.544+13C>T NP_001238949.1:n.544+13C>T
NM_001252024.1:c.493+13C>T NP_001238953.1:n.493+13C>T
NM_002420.5:c.427+13C>T NP_002411.3:n.427+13C>T
NM_002420.6:c.427+13C>T NP_002411.3:n.427+13C>T
ENST00000256552.10:c.493+13C>T ENSP00000256552.6:n.493+13C>T
ENST00000397795.6:c.427+13C>T ENSP00000380897.2:n.427+13C>T
ENST00000397795.7:c.427+13C>T ENSP00000380897.2:n.427+13C>T
ENST00000542188.5:c.544+13C>T ENSP00000437849.1:n.544+13C>T
ENST00000558445.5:c.427+13C>T ENSP00000452946.1:n.427+13C>T
ENST00000558445.6:c.544+13C>T ENSP00000452946.2:n.544+13C>T
ENST00000558768.5:c.214+13C>T ENSP00000453119.2:n.214+13C>T
ENST00000559177.5:c.427+13C>T ENSP00000453477.1:n.427+13C>T
ENST00000559177.6:c.544+13C>T ENSP00000453477.2:n.544+13C>T
ENST00000560658.5:c.427+13C>T ENSP00000454077.1:n.427+13C>T
ENST00000560801.5:c.214+13C>T ENSP00000453644.2:n.214+13C>T
ENST00000711434.1:c.427+13C>T ENSP00000518752.1:n.427+13C>T