Canonical Allele Identifier: CA242766

Gene: TRPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31002201G>A , CM000677.2:g.31002201G>A	GRCh38
NC_000015.9:g.31294404G>A , CM000677.1:g.31294404G>A	GRCh37
NC_000015.8:g.29081696G>A	NCBI36
NG_016453.1:g.104521C>T
NG_016453.2:g.164073C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001252024.2:c.4499C>T MANE Select	NP_001238953.1:p.Thr1500Met
ENST00000256552.11:c.4499C>T MANE Select	ENSP00000256552.7:p.Thr1500Met
NM_001252020.1:c.4550C>T	NP_001238949.1:p.Thr1517Met
NM_001252020.2:c.4550C>T	NP_001238949.1:p.Thr1517Met
NM_001252024.1:c.4499C>T	NP_001238953.1:p.Thr1500Met
NM_002420.5:c.4433C>T	NP_002411.3:p.Thr1478Met
NM_002420.6:c.4433C>T	NP_002411.3:p.Thr1478Met
ENST00000256552.10:c.4499C>T	ENSP00000256552.6:p.Thr1500Met
ENST00000397795.6:c.4433C>T	ENSP00000380897.2:p.Thr1478Met
ENST00000397795.7:c.4433C>T	ENSP00000380897.2:p.Thr1478Met
ENST00000542188.5:c.4550C>T	ENSP00000437849.1:p.Thr1517Met
ENST00000558445.6:c.4550C>T	ENSP00000452946.2:p.Thr1517Met
ENST00000558768.5:c.4202C>T	ENSP00000453119.2:p.Thr1401Met
ENST00000559177.6:c.1895C>T	ENSP00000453477.2:p.Thr632Met
ENST00000560801.5:c.4075C>T	ENSP00000453644.2:n.4075C>T
ENST00000711434.1:c.4451C>T	ENSP00000518752.1:p.Thr1484Met