Canonical Allele Identifier: CA387540568

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23915794C>G (hg19) ; chr13:g.23341655C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341655C>G , CM000675.2:g.23341655C>G	GRCh38
NC_000013.10:g.23915794C>G , CM000675.1:g.23915794C>G	GRCh37
NC_000013.9:g.22813794C>G	NCBI36
NG_012342.1:g.97048G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12130G>C	ENSP00000508399.1:n.2185+12130G>C
ENST00000682944.1:c.2248G>C	ENSP00000507173.1:p.Glu750Gln
ENST00000683210.1:c.2185+12130G>C	ENSP00000506739.1:n.2185+12130G>C
ENST00000683270.1:c.2212G>C	ENSP00000507624.1:p.Glu738Gln
ENST00000683367.1:c.2176+12130G>C	ENSP00000507780.1:n.2176+12130G>C
ENST00000683489.1:c.2221G>C	ENSP00000508403.1:p.Glu741Gln
ENST00000683680.1:c.2248G>C	ENSP00000507223.1:p.Glu750Gln
ENST00000684163.1:c.2203+5156G>C	ENSP00000508262.1:n.2203+5156G>C
ENST00000684196.1:n.4542+12130G>C
ENST00000684325.1:c.2185+12130G>C	ENSP00000508121.1:n.2185+12130G>C
ENST00000684385.1:c.2220+5156G>C	ENSP00000507855.1:n.2220+5156G>C
ENST00000684497.1:c.2185+12130G>C	ENSP00000507057.1:n.2185+12130G>C
ENST00000382292.9:c.2221G>C MANE Select	ENSP00000371729.3:p.Glu741Gln
ENST00000423156.2:c.2185+12130G>C	ENSP00000390925.2:n.2185+12130G>C
ENST00000455470.6:c.2221G>C	ENSP00000406565.2:p.Glu741Gln
ENST00000382292.7:c.2221G>C	ENSP00000371729.3:p.Glu741Gln
ENST00000382298.7:c.2221G>C	ENSP00000371735.3:p.Glu741Gln
ENST00000402364.1:c.-30G>C	ENSP00000385844.1:n.-30G>C
ENST00000423156.1:c.1057+12130G>C	ENSP00000390925.1:n.1057+12130G>C
ENST00000455470.5:c.1919G>C
NM_001278055.1:c.1780G>C	NP_001264984.1:p.Glu594Gln
NM_014363.5:c.2221G>C	NP_055178.3:p.Glu741Gln
XM_005266338.1:c.2248G>C	XP_005266395.1:p.Glu750Gln
XM_011535038.1:c.2272G>C	XP_011533340.1:p.Glu758Gln
XM_011535039.1:c.2239G>C	XP_011533341.1:p.Glu747Gln
XM_005266338.2:c.2248G>C	XP_005266395.1:p.Glu750Gln
XM_011535039.2:c.2239G>C	XP_011533341.1:p.Glu747Gln
XM_017020539.1:c.2212G>C	XP_016876028.1:p.Glu738Gln
XM_024449337.1:c.2248G>C	XP_024305105.1:p.Glu750Gln
NM_014363.6:c.2221G>C MANE Select	NP_055178.3:p.Glu741Gln
NM_001278055.2:c.1780G>C	NP_001264984.1:p.Glu594Gln