Canonical Allele Identifier: CA7452004

Gene: TRPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31031093C>T , CM000677.2:g.31031093C>T	GRCh38
NC_000015.9:g.31323296C>T , CM000677.1:g.31323296C>T	GRCh37
NC_000015.8:g.29110588C>T	NCBI36
NG_016453.1:g.75629G>A
NG_016453.2:g.135181G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001252024.2:c.3017G>A MANE Select	NP_001238953.1:p.Arg1006His
ENST00000256552.11:c.3017G>A MANE Select	ENSP00000256552.7:p.Arg1006His
NM_001252020.1:c.3068G>A	NP_001238949.1:p.Arg1023His
NM_001252020.2:c.3068G>A	NP_001238949.1:p.Arg1023His
NM_001252024.1:c.3017G>A	NP_001238953.1:p.Arg1006His
NM_002420.5:c.2951G>A	NP_002411.3:p.Arg984His
NM_002420.6:c.2951G>A	NP_002411.3:p.Arg984His
ENST00000256552.10:c.3017G>A	ENSP00000256552.6:p.Arg1006His
ENST00000397795.6:c.2951G>A	ENSP00000380897.2:p.Arg984His
ENST00000397795.7:c.2951G>A	ENSP00000380897.2:p.Arg984His
ENST00000542188.5:c.3068G>A	ENSP00000437849.1:p.Arg1023His
ENST00000557948.1:n.392G>A
ENST00000558212.5:n.240G>A
ENST00000558445.5:c.2951G>A	ENSP00000452946.1:p.Arg984His
ENST00000558445.6:c.3068G>A	ENSP00000452946.2:p.Arg1023His
ENST00000558768.5:c.2720G>A	ENSP00000453119.2:p.Arg907His
ENST00000559177.5:c.428-2617G>A	ENSP00000453477.1:n.428-2617G>A
ENST00000559177.6:c.545-2617G>A	ENSP00000453477.2:n.545-2617G>A
ENST00000560801.5:c.2703+1596G>A	ENSP00000453644.2:n.2703+1596G>A
ENST00000711434.1:c.2951G>A	ENSP00000518752.1:p.Arg984His
XR_001751769.1:n.278+3982C>T
XR_932055.1:n.260+3982C>T
XR_932056.1:n.89+3982C>T
XR_932057.1:n.260+3982C>T
XR_932058.1:n.88+3982C>T