Canonical Allele Identifier: CA877581

Gene: MYSM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.58661414G>A , CM000663.2:g.58661414G>A	GRCh38
NC_000001.10:g.59127086G>A , CM000663.1:g.59127086G>A	GRCh37
NC_000001.9:g.58899674G>A	NCBI36
NG_065323.1:g.43678C>T
NG_065323.2:g.43664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000659812.2:c.2332C>T	ENSP00000499686.2:n.2332C>T
ENST00000697250.1:n.1885C>T
ENST00000697251.1:n.803C>T
ENST00000697252.1:n.1380C>T
ENST00000697253.1:c.2214C>T	ENSP00000513210.1:n.2214C>T
ENST00000697254.1:c.*1909C>T	ENSP00000513211.1:n.*1909C>T
ENST00000697255.1:c.2238C>T	ENSP00000513212.1:p.Leu746=
ENST00000697256.1:n.281C>T
ENST00000697257.1:n.4134C>T
ENST00000697258.1:n.2444C>T
ENST00000472487.6:c.2262C>T MANE Select	ENSP00000418734.1:p.Leu754=
ENST00000493821.6:n.2311C>T
ENST00000655340.1:c.2262C>T	ENSP00000499373.1:p.Leu754=
ENST00000659108.1:c.*3920C>T	ENSP00000499571.1:n.*3920C>T
ENST00000659812.1:c.2279C>T
ENST00000660611.1:n.2297C>T
ENST00000665648.1:c.*626C>T	ENSP00000499586.1:n.*626C>T
ENST00000401044.7:n.2107C>T
ENST00000472487.5:c.2262C>T	ENSP00000418734.1:p.Leu754=
ENST00000493821.5:n.2311C>T
ENST00000622766.1:c.480C>T	ENSP00000478391.1:p.Leu160=
NM_001085487.2:c.2262C>T	NP_001078956.1:p.Leu754=
XM_006710314.2:c.2262C>T	XP_006710377.1:p.Leu754=
XM_011540573.1:c.2061C>T	XP_011538875.1:p.Leu687=
XM_011540574.1:c.1995C>T	XP_011538876.1:p.Leu665=
XR_246231.3:n.2388C>T
XM_006710314.3:c.2262C>T	XP_006710377.1:p.Leu754=
XM_011540573.3:c.2061C>T	XP_011538875.1:p.Leu687=
XM_011540574.2:c.1995C>T	XP_011538876.1:p.Leu665=
XR_246231.4:n.2387C>T
XR_946533.2:n.2374C>T
NM_001085487.3:c.2262C>T MANE Select	NP_001078956.1:p.Leu754=