Canonical Allele Identifier: CA246055

Gene: TRPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31067174G>A , CM000677.2:g.31067174G>A	GRCh38
NC_000015.9:g.31359377G>A , CM000677.1:g.31359377G>A	GRCh37
NC_000015.8:g.29146669G>A	NCBI36
NG_016453.1:g.39548C>T
NG_016453.2:g.99100C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001252024.2:c.507C>T MANE Select	NP_001238953.1:p.His169=
ENST00000256552.11:c.507C>T MANE Select	ENSP00000256552.7:p.His169=
NM_001252020.1:c.558C>T	NP_001238949.1:p.His186=
NM_001252020.2:c.558C>T	NP_001238949.1:p.His186=
NM_001252024.1:c.507C>T	NP_001238953.1:p.His169=
NM_002420.5:c.441C>T	NP_002411.3:p.His147=
NM_002420.6:c.441C>T	NP_002411.3:p.His147=
ENST00000256552.10:c.507C>T	ENSP00000256552.6:p.His169=
ENST00000397795.6:c.441C>T	ENSP00000380897.2:p.His147=
ENST00000397795.7:c.441C>T	ENSP00000380897.2:p.His147=
ENST00000542188.5:c.558C>T	ENSP00000437849.1:p.His186=
ENST00000558445.5:c.441C>T	ENSP00000452946.1:p.His147=
ENST00000558445.6:c.558C>T	ENSP00000452946.2:p.His186=
ENST00000558768.5:c.228C>T	ENSP00000453119.2:p.His76=
ENST00000559177.5:c.427+705C>T	ENSP00000453477.1:n.427+705C>T
ENST00000559177.6:c.544+705C>T	ENSP00000453477.2:n.544+705C>T
ENST00000560658.5:c.441C>T	ENSP00000454077.1:p.His147=
ENST00000560801.5:c.228C>T	ENSP00000453644.2:p.His76=
ENST00000711434.1:c.441C>T	ENSP00000518752.1:p.His147=