Canonical Allele Identifier: CA16619916

Gene: TRPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31047908A>G , CM000677.2:g.31047908A>G	GRCh38
NC_000015.9:g.31340111A>G , CM000677.1:g.31340111A>G	GRCh37
NC_000015.8:g.29127403A>G	NCBI36
NG_016453.1:g.58814T>C
NG_016453.2:g.118366T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711434.1:c.1538T>C	ENSP00000518752.1:p.Leu513Pro
ENST00000397795.7:c.1538T>C	ENSP00000380897.2:p.Leu513Pro
ENST00000558445.6:c.1655T>C	ENSP00000452946.2:p.Leu552Pro
ENST00000559177.6:c.545-19432T>C	ENSP00000453477.2:n.545-19432T>C
ENST00000256552.11:c.1604T>C MANE Select	ENSP00000256552.7:p.Leu535Pro
ENST00000256552.10:c.1604T>C	ENSP00000256552.6:p.Leu535Pro
ENST00000397795.6:c.1538T>C	ENSP00000380897.2:p.Leu513Pro
ENST00000542188.5:c.1655T>C	ENSP00000437849.1:p.Leu552Pro
ENST00000558445.5:c.1538T>C	ENSP00000452946.1:p.Leu513Pro
ENST00000558768.5:c.1307T>C	ENSP00000453119.2:p.Leu436Pro
ENST00000559177.5:c.428-19432T>C	ENSP00000453477.1:n.428-19432T>C
ENST00000560801.5:c.1355T>C	ENSP00000453644.2:n.1355T>C
NM_001252020.1:c.1655T>C	NP_001238949.1:p.Leu552Pro
NM_001252024.1:c.1604T>C	NP_001238953.1:p.Leu535Pro
NM_002420.5:c.1538T>C	NP_002411.3:p.Leu513Pro
NM_001252024.2:c.1604T>C MANE Select	NP_001238953.1:p.Leu535Pro
NM_002420.6:c.1538T>C	NP_002411.3:p.Leu513Pro
NM_001252020.2:c.1655T>C	NP_001238949.1:p.Leu552Pro