Canonical Allele Identifier: CA7452558
Community Standard Title: NM_001252024.2(TRPM1):c.1455A>G (p.Gln485=)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31049492T>C , CM000677.2:g.31049492T>C GRCh38
NC_000015.9:g.31341695T>C , CM000677.1:g.31341695T>C GRCh37
NC_000015.8:g.29128987T>C NCBI36
NG_016453.1:g.57230A>G
NG_016453.2:g.116782A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.1455A>G MANE Select NP_001238953.1:p.Gln485=
ENST00000256552.11:c.1455A>G MANE Select ENSP00000256552.7:p.Gln485=
NM_001252020.1:c.1506A>G NP_001238949.1:p.Gln502=
NM_001252020.2:c.1506A>G NP_001238949.1:p.Gln502=
NM_001252024.1:c.1455A>G NP_001238953.1:p.Gln485=
NM_002420.5:c.1389A>G NP_002411.3:p.Gln463=
NM_002420.6:c.1389A>G NP_002411.3:p.Gln463=
ENST00000256552.10:c.1455A>G ENSP00000256552.6:p.Gln485=
ENST00000397795.6:c.1389A>G ENSP00000380897.2:p.Gln463=
ENST00000397795.7:c.1389A>G ENSP00000380897.2:p.Gln463=
ENST00000542188.5:c.1506A>G ENSP00000437849.1:p.Gln502=
ENST00000558445.5:c.1389A>G ENSP00000452946.1:p.Gln463=
ENST00000558445.6:c.1506A>G ENSP00000452946.2:p.Gln502=
ENST00000558768.5:c.1158A>G ENSP00000453119.2:p.Gln386=
ENST00000559177.5:c.427+18387A>G ENSP00000453477.1:n.427+18387A>G
ENST00000559177.6:c.544+18387A>G ENSP00000453477.2:n.544+18387A>G
ENST00000560801.5:c.1206A>G ENSP00000453644.2:n.1206A>G
ENST00000711434.1:c.1389A>G ENSP00000518752.1:p.Gln463=