Canonical Allele Identifier: CA391527889

Gene: TRPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31063137T>A , CM000677.2:g.31063137T>A	GRCh38
NC_000015.9:g.31355340T>A , CM000677.1:g.31355340T>A	GRCh37
NC_000015.8:g.29142632T>A	NCBI36
NG_016453.1:g.43585A>T
NG_016453.2:g.103137A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001252024.2:c.946A>T MANE Select	NP_001238953.1:p.Lys316Ter
ENST00000256552.11:c.946A>T MANE Select	ENSP00000256552.7:p.Lys316Ter
NM_001252020.1:c.997A>T	NP_001238949.1:p.Lys333Ter
NM_001252020.2:c.997A>T	NP_001238949.1:p.Lys333Ter
NM_001252024.1:c.946A>T	NP_001238953.1:p.Lys316Ter
NM_002420.5:c.880A>T	NP_002411.3:p.Lys294Ter
NM_002420.6:c.880A>T	NP_002411.3:p.Lys294Ter
ENST00000256552.10:c.946A>T	ENSP00000256552.6:p.Lys316Ter
ENST00000397795.6:c.880A>T	ENSP00000380897.2:p.Lys294Ter
ENST00000397795.7:c.880A>T	ENSP00000380897.2:p.Lys294Ter
ENST00000542188.5:c.997A>T	ENSP00000437849.1:p.Lys333Ter
ENST00000558445.5:c.880A>T	ENSP00000452946.1:p.Lys294Ter
ENST00000558445.6:c.997A>T	ENSP00000452946.2:p.Lys333Ter
ENST00000558768.5:c.667A>T	ENSP00000453119.2:p.Lys223Ter
ENST00000559177.5:c.427+4742A>T	ENSP00000453477.1:n.427+4742A>T
ENST00000559177.6:c.544+4742A>T	ENSP00000453477.2:n.544+4742A>T
ENST00000560658.5:c.880A>T	ENSP00000454077.1:p.Lys294Ter
ENST00000560801.5:c.667A>T	ENSP00000453644.2:p.Lys223Ter
ENST00000711434.1:c.880A>T	ENSP00000518752.1:p.Lys294Ter