Canonical Allele Identifier: CA7452899
Community Standard Title: NM_001252024.2(TRPM1):c.600A>G (p.Glu200=)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31067081T>C , CM000677.2:g.31067081T>C GRCh38
NC_000015.9:g.31359284T>C , CM000677.1:g.31359284T>C GRCh37
NC_000015.8:g.29146576T>C NCBI36
NG_016453.1:g.39641A>G
NG_016453.2:g.99193A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.600A>G MANE Select NP_001238953.1:p.Glu200=
ENST00000256552.11:c.600A>G MANE Select ENSP00000256552.7:p.Glu200=
NM_001252020.1:c.651A>G NP_001238949.1:p.Glu217=
NM_001252020.2:c.651A>G NP_001238949.1:p.Glu217=
NM_001252024.1:c.600A>G NP_001238953.1:p.Glu200=
NM_002420.5:c.534A>G NP_002411.3:p.Glu178=
NM_002420.6:c.534A>G NP_002411.3:p.Glu178=
ENST00000256552.10:c.600A>G ENSP00000256552.6:p.Glu200=
ENST00000397795.6:c.534A>G ENSP00000380897.2:p.Glu178=
ENST00000397795.7:c.534A>G ENSP00000380897.2:p.Glu178=
ENST00000542188.5:c.651A>G ENSP00000437849.1:p.Glu217=
ENST00000558445.5:c.534A>G ENSP00000452946.1:p.Glu178=
ENST00000558445.6:c.651A>G ENSP00000452946.2:p.Glu217=
ENST00000558768.5:c.321A>G ENSP00000453119.2:p.Glu107=
ENST00000559177.5:c.427+798A>G ENSP00000453477.1:n.427+798A>G
ENST00000559177.6:c.544+798A>G ENSP00000453477.2:n.544+798A>G
ENST00000560658.5:c.534A>G ENSP00000454077.1:p.Glu178=
ENST00000560801.5:c.321A>G ENSP00000453644.2:p.Glu107=
ENST00000711434.1:c.534A>G ENSP00000518752.1:p.Glu178=