Canonical Allele Identifier: CA391537315
Gene: TRPM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31070142C>A , CM000677.2:g.31070142C>A GRCh38
NC_000015.9:g.31362345C>A , CM000677.1:g.31362345C>A GRCh37
NC_000015.8:g.29149637C>A NCBI36
NG_016453.1:g.36580G>T
NG_016453.2:g.96132G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000711434.1:c.102G>T ENSP00000518752.1:p.Gln34His
ENST00000397795.7:c.102G>T ENSP00000380897.2:p.Gln34His
ENST00000558445.6:c.219G>T ENSP00000452946.2:p.Gln73His
ENST00000559177.6:c.219G>T ENSP00000453477.2:p.Gln73His
ENST00000559179.2:c.102G>T ENSP00000453851.1:p.Gln34His
ENST00000256552.11:c.168G>T MANE Select ENSP00000256552.7:p.Gln56His
ENST00000256552.10:c.168G>T ENSP00000256552.6:p.Gln56His
ENST00000397795.6:c.102G>T ENSP00000380897.2:p.Gln34His
ENST00000542188.5:c.219G>T ENSP00000437849.1:p.Gln73His
ENST00000558445.5:c.102G>T ENSP00000452946.1:p.Gln34His
ENST00000559177.5:c.102G>T ENSP00000453477.1:p.Gln34His
ENST00000559179.1:c.102G>T ENSP00000453851.1:p.Gln34His
ENST00000560658.5:c.102G>T ENSP00000454077.1:p.Gln34His
NM_001252020.1:c.219G>T NP_001238949.1:p.Gln73His
NM_001252024.1:c.168G>T NP_001238953.1:p.Gln56His
NM_001252030.1:c.102G>T NP_001238959.1:p.Gln34His
NM_002420.5:c.102G>T NP_002411.3:p.Gln34His
NM_001252024.2:c.168G>T MANE Select NP_001238953.1:p.Gln56His
NM_001252030.2:c.102G>T NP_001238959.1:p.Gln34His
NM_002420.6:c.102G>T NP_002411.3:p.Gln34His
NM_001252020.2:c.219G>T NP_001238949.1:p.Gln73His