Canonical Allele Identifier: CA7452913
Community Standard Title: NM_001252024.2(TRPM1):c.551G>A (p.Arg184Gln)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31067130C>T , CM000677.2:g.31067130C>T GRCh38
NC_000015.9:g.31359333C>T , CM000677.1:g.31359333C>T GRCh37
NC_000015.8:g.29146625C>T NCBI36
NG_016453.1:g.39592G>A
NG_016453.2:g.99144G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.551G>A MANE Select NP_001238953.1:p.Arg184Gln
ENST00000256552.11:c.551G>A MANE Select ENSP00000256552.7:p.Arg184Gln
NM_001252020.1:c.602G>A NP_001238949.1:p.Arg201Gln
NM_001252020.2:c.602G>A NP_001238949.1:p.Arg201Gln
NM_001252024.1:c.551G>A NP_001238953.1:p.Arg184Gln
NM_002420.5:c.485G>A NP_002411.3:p.Arg162Gln
NM_002420.6:c.485G>A NP_002411.3:p.Arg162Gln
ENST00000256552.10:c.551G>A ENSP00000256552.6:p.Arg184Gln
ENST00000397795.6:c.485G>A ENSP00000380897.2:p.Arg162Gln
ENST00000397795.7:c.485G>A ENSP00000380897.2:p.Arg162Gln
ENST00000542188.5:c.602G>A ENSP00000437849.1:p.Arg201Gln
ENST00000558445.5:c.485G>A ENSP00000452946.1:p.Arg162Gln
ENST00000558445.6:c.602G>A ENSP00000452946.2:p.Arg201Gln
ENST00000558768.5:c.272G>A ENSP00000453119.2:p.Arg91Gln
ENST00000559177.5:c.427+749G>A ENSP00000453477.1:n.427+749G>A
ENST00000559177.6:c.544+749G>A ENSP00000453477.2:n.544+749G>A
ENST00000560658.5:c.485G>A ENSP00000454077.1:p.Arg162Gln
ENST00000560801.5:c.272G>A ENSP00000453644.2:p.Arg91Gln
ENST00000711434.1:c.485G>A ENSP00000518752.1:p.Arg162Gln