Canonical Allele Identifier: CA7452283

Gene: TRPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31040188G>C , CM000677.2:g.31040188G>C	GRCh38
NC_000015.9:g.31332391G>C , CM000677.1:g.31332391G>C	GRCh37
NC_000015.8:g.29119683G>C	NCBI36
NG_016453.1:g.66534C>G
NG_016453.2:g.126086C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001252024.2:c.2246C>G MANE Select	NP_001238953.1:p.Thr749Ser
ENST00000256552.11:c.2246C>G MANE Select	ENSP00000256552.7:p.Thr749Ser
NM_001252020.1:c.2297C>G	NP_001238949.1:p.Thr766Ser
NM_001252020.2:c.2297C>G	NP_001238949.1:p.Thr766Ser
NM_001252024.1:c.2246C>G	NP_001238953.1:p.Thr749Ser
NM_002420.5:c.2180C>G	NP_002411.3:p.Thr727Ser
NM_002420.6:c.2180C>G	NP_002411.3:p.Thr727Ser
ENST00000256552.10:c.2246C>G	ENSP00000256552.6:p.Thr749Ser
ENST00000397795.6:c.2180C>G	ENSP00000380897.2:p.Thr727Ser
ENST00000397795.7:c.2180C>G	ENSP00000380897.2:p.Thr727Ser
ENST00000542188.5:c.2297C>G	ENSP00000437849.1:p.Thr766Ser
ENST00000558445.5:c.2180C>G	ENSP00000452946.1:p.Thr727Ser
ENST00000558445.6:c.2297C>G	ENSP00000452946.2:p.Thr766Ser
ENST00000558768.5:c.1949C>G	ENSP00000453119.2:p.Thr650Ser
ENST00000559177.5:c.428-11712C>G	ENSP00000453477.1:n.428-11712C>G
ENST00000559177.6:c.545-11712C>G	ENSP00000453477.2:n.545-11712C>G
ENST00000560801.5:c.1997C>G	ENSP00000453644.2:n.1997C>G
ENST00000711434.1:c.2180C>G	ENSP00000518752.1:p.Thr727Ser