Canonical Allele Identifier: CA877632

Gene: MYSM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.58667030T>C , CM000663.2:g.58667030T>C	GRCh38
NC_000001.10:g.59132702T>C , CM000663.1:g.59132702T>C	GRCh37
NC_000001.9:g.58905290T>C	NCBI36
NG_065323.1:g.38062A>G
NG_065323.2:g.38048A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000659812.2:c.2028+8A>G	ENSP00000499686.2:n.2028+8A>G
ENST00000697250.1:n.1654+8A>G
ENST00000697251.1:n.572+8A>G
ENST00000697252.1:n.1149+8A>G
ENST00000697253.1:c.1983+8A>G	ENSP00000513210.1:n.1983+8A>G
ENST00000697254.1:c.*1678+8A>G	ENSP00000513211.1:n.*1678+8A>G
ENST00000697255.1:c.2007+8A>G	ENSP00000513212.1:n.2007+8A>G
ENST00000697257.1:n.4037-5519A>G
ENST00000697258.1:n.2346+817A>G
ENST00000697259.1:n.2078A>G
ENST00000697260.1:n.1573A>G
ENST00000472487.6:c.2031+8A>G MANE Select	ENSP00000418734.1:n.2031+8A>G
ENST00000493821.6:n.2080+8A>G
ENST00000655340.1:c.2031+8A>G	ENSP00000499373.1:n.2031+8A>G
ENST00000659108.1:c.*1678+8A>G	ENSP00000499571.1:n.*1678+8A>G
ENST00000659812.1:c.1975+8A>G
ENST00000660611.1:n.2066+8A>G
ENST00000665648.1:c.*395+8A>G	ENSP00000499586.1:n.*395+8A>G
ENST00000401044.7:n.1876+8A>G
ENST00000472487.5:c.2031+8A>G	ENSP00000418734.1:n.2031+8A>G
ENST00000493821.5:n.2080+8A>G
ENST00000622766.1:c.249+8A>G	ENSP00000478391.1:n.249+8A>G
NM_001085487.2:c.2031+8A>G	NP_001078956.1:n.2031+8A>G
XM_006710314.2:c.2031+8A>G	XP_006710377.1:n.2031+8A>G
XM_011540573.1:c.1830+8A>G	XP_011538875.1:n.1830+8A>G
XM_011540574.1:c.1764+8A>G	XP_011538876.1:n.1764+8A>G
XR_246231.3:n.2157+8A>G
XR_946533.1:n.2071+8A>G
XM_006710314.3:c.2031+8A>G	XP_006710377.1:n.2031+8A>G
XM_011540573.3:c.1830+8A>G	XP_011538875.1:n.1830+8A>G
XM_011540574.2:c.1764+8A>G	XP_011538876.1:n.1764+8A>G
XR_246231.4:n.2156+8A>G
XR_946533.2:n.2070+8A>G
NM_001085487.3:c.2031+8A>G MANE Select	NP_001078956.1:n.2031+8A>G