Canonical Allele Identifier: CA7452798

Gene: TRPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31063288C>G , CM000677.2:g.31063288C>G	GRCh38
NC_000015.9:g.31355491C>G , CM000677.1:g.31355491C>G	GRCh37
NC_000015.8:g.29142783C>G	NCBI36
NG_016453.1:g.43434G>C
NG_016453.2:g.102986G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001252024.2:c.795G>C MANE Select	NP_001238953.1:p.Leu265=
ENST00000256552.11:c.795G>C MANE Select	ENSP00000256552.7:p.Leu265=
NM_001252020.1:c.846G>C	NP_001238949.1:p.Leu282=
NM_001252020.2:c.846G>C	NP_001238949.1:p.Leu282=
NM_001252024.1:c.795G>C	NP_001238953.1:p.Leu265=
NM_002420.5:c.729G>C	NP_002411.3:p.Leu243=
NM_002420.6:c.729G>C	NP_002411.3:p.Leu243=
ENST00000256552.10:c.795G>C	ENSP00000256552.6:p.Leu265=
ENST00000397795.6:c.729G>C	ENSP00000380897.2:p.Leu243=
ENST00000397795.7:c.729G>C	ENSP00000380897.2:p.Leu243=
ENST00000542188.5:c.846G>C	ENSP00000437849.1:p.Leu282=
ENST00000558445.5:c.729G>C	ENSP00000452946.1:p.Leu243=
ENST00000558445.6:c.846G>C	ENSP00000452946.2:p.Leu282=
ENST00000558768.5:c.516G>C	ENSP00000453119.2:p.Leu172=
ENST00000559177.5:c.427+4591G>C	ENSP00000453477.1:n.427+4591G>C
ENST00000559177.6:c.544+4591G>C	ENSP00000453477.2:n.544+4591G>C
ENST00000560658.5:c.729G>C	ENSP00000454077.1:p.Leu243=
ENST00000560801.5:c.516G>C	ENSP00000453644.2:p.Leu172=
ENST00000711434.1:c.729G>C	ENSP00000518752.1:p.Leu243=