Canonical Allele Identifier: CA391529391
Community Standard Title: NM_001252024.2(TRPM1):c.832G>C (p.Gly278Arg)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31063251C>G , CM000677.2:g.31063251C>G GRCh38
NC_000015.9:g.31355454C>G , CM000677.1:g.31355454C>G GRCh37
NC_000015.8:g.29142746C>G NCBI36
NG_016453.1:g.43471G>C
NG_016453.2:g.103023G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.832G>C MANE Select NP_001238953.1:p.Gly278Arg
ENST00000256552.11:c.832G>C MANE Select ENSP00000256552.7:p.Gly278Arg
NM_001252020.1:c.883G>C NP_001238949.1:p.Gly295Arg
NM_001252020.2:c.883G>C NP_001238949.1:p.Gly295Arg
NM_001252024.1:c.832G>C NP_001238953.1:p.Gly278Arg
NM_002420.5:c.766G>C NP_002411.3:p.Gly256Arg
NM_002420.6:c.766G>C NP_002411.3:p.Gly256Arg
ENST00000256552.10:c.832G>C ENSP00000256552.6:p.Gly278Arg
ENST00000397795.6:c.766G>C ENSP00000380897.2:p.Gly256Arg
ENST00000397795.7:c.766G>C ENSP00000380897.2:p.Gly256Arg
ENST00000542188.5:c.883G>C ENSP00000437849.1:p.Gly295Arg
ENST00000558445.5:c.766G>C ENSP00000452946.1:p.Gly256Arg
ENST00000558445.6:c.883G>C ENSP00000452946.2:p.Gly295Arg
ENST00000558768.5:c.553G>C ENSP00000453119.2:p.Gly185Arg
ENST00000559177.5:c.427+4628G>C ENSP00000453477.1:n.427+4628G>C
ENST00000559177.6:c.544+4628G>C ENSP00000453477.2:n.544+4628G>C
ENST00000560658.5:c.766G>C ENSP00000454077.1:p.Gly256Arg
ENST00000560801.5:c.553G>C ENSP00000453644.2:p.Gly185Arg
ENST00000711434.1:c.766G>C ENSP00000518752.1:p.Gly256Arg