Canonical Allele Identifier: CA7451999

Gene: TRPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31031040T>A , CM000677.2:g.31031040T>A	GRCh38
NC_000015.9:g.31323243T>A , CM000677.1:g.31323243T>A	GRCh37
NC_000015.8:g.29110535T>A	NCBI36
NG_016453.1:g.75682A>T
NG_016453.2:g.135234A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001252024.2:c.3070A>T MANE Select	NP_001238953.1:p.Ile1024Phe
ENST00000256552.11:c.3070A>T MANE Select	ENSP00000256552.7:p.Ile1024Phe
NM_001252020.1:c.3121A>T	NP_001238949.1:p.Ile1041Phe
NM_001252020.2:c.3121A>T	NP_001238949.1:p.Ile1041Phe
NM_001252024.1:c.3070A>T	NP_001238953.1:p.Ile1024Phe
NM_002420.5:c.3004A>T	NP_002411.3:p.Ile1002Phe
NM_002420.6:c.3004A>T	NP_002411.3:p.Ile1002Phe
ENST00000256552.10:c.3070A>T	ENSP00000256552.6:p.Ile1024Phe
ENST00000397795.6:c.3004A>T	ENSP00000380897.2:p.Ile1002Phe
ENST00000397795.7:c.3004A>T	ENSP00000380897.2:p.Ile1002Phe
ENST00000542188.5:c.3121A>T	ENSP00000437849.1:p.Ile1041Phe
ENST00000557948.1:n.445A>T
ENST00000558212.5:n.293A>T
ENST00000558445.5:c.3004A>T	ENSP00000452946.1:p.Ile1002Phe
ENST00000558445.6:c.3121A>T	ENSP00000452946.2:p.Ile1041Phe
ENST00000558768.5:c.2773A>T	ENSP00000453119.2:p.Ile925Phe
ENST00000559177.5:c.428-2564A>T	ENSP00000453477.1:n.428-2564A>T
ENST00000559177.6:c.545-2564A>T	ENSP00000453477.2:n.545-2564A>T
ENST00000560801.5:c.2704-1649A>T	ENSP00000453644.2:n.2704-1649A>T
ENST00000711434.1:c.3004A>T	ENSP00000518752.1:p.Ile1002Phe
XR_001751769.1:n.278+3929T>A
XR_932055.1:n.260+3929T>A
XR_932056.1:n.89+3929T>A
XR_932057.1:n.260+3929T>A
XR_932058.1:n.88+3929T>A