Canonical Allele Identifier: CA241929

Gene: TRPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31035593T>C , CM000677.2:g.31035593T>C	GRCh38
NC_000015.9:g.31327796T>C , CM000677.1:g.31327796T>C	GRCh37
NC_000015.8:g.29115088T>C	NCBI36
NG_016453.1:g.71129A>G
NG_016453.2:g.130681A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001252024.2:c.2653A>G MANE Select	NP_001238953.1:p.Ile885Val
ENST00000256552.11:c.2653A>G MANE Select	ENSP00000256552.7:p.Ile885Val
NM_001252020.1:c.2704A>G	NP_001238949.1:p.Ile902Val
NM_001252020.2:c.2704A>G	NP_001238949.1:p.Ile902Val
NM_001252024.1:c.2653A>G	NP_001238953.1:p.Ile885Val
NM_002420.5:c.2587A>G	NP_002411.3:p.Ile863Val
NM_002420.6:c.2587A>G	NP_002411.3:p.Ile863Val
ENST00000256552.10:c.2653A>G	ENSP00000256552.6:p.Ile885Val
ENST00000397795.6:c.2587A>G	ENSP00000380897.2:p.Ile863Val
ENST00000397795.7:c.2587A>G	ENSP00000380897.2:p.Ile863Val
ENST00000542188.5:c.2704A>G	ENSP00000437849.1:p.Ile902Val
ENST00000558445.5:c.2587A>G	ENSP00000452946.1:p.Ile863Val
ENST00000558445.6:c.2704A>G	ENSP00000452946.2:p.Ile902Val
ENST00000558768.5:c.2356A>G	ENSP00000453119.2:p.Ile786Val
ENST00000559177.5:c.428-7117A>G	ENSP00000453477.1:n.428-7117A>G
ENST00000559177.6:c.545-7117A>G	ENSP00000453477.2:n.545-7117A>G
ENST00000560801.5:c.2404A>G	ENSP00000453644.2:n.2404A>G
ENST00000711434.1:c.2587A>G	ENSP00000518752.1:p.Ile863Val
XR_001751769.1:n.279-160T>C
XR_932055.1:n.284T>C
XR_932056.1:n.113T>C
XR_932057.1:n.284T>C
XR_932058.1:n.89-160T>C