Canonical Allele Identifier: CA387535993

Gene: SACS

Linked Data

• COSMIC: COSM946064 ; COSM1586918
• MyVariant Identifiers: chr13:g.23914717C>A (hg19) ; chr13:g.23340578C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340578C>A , CM000675.2:g.23340578C>A	GRCh38
NC_000013.10:g.23914717C>A , CM000675.1:g.23914717C>A	GRCh37
NC_000013.9:g.22812717C>A	NCBI36
NG_012342.1:g.98125G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+13207G>T	ENSP00000508399.1:n.2185+13207G>T
ENST00000682944.1:c.3325G>T	ENSP00000507173.1:p.Glu1109Ter
ENST00000683210.1:c.2185+13207G>T	ENSP00000506739.1:n.2185+13207G>T
ENST00000683270.1:c.3289G>T	ENSP00000507624.1:p.Glu1097Ter
ENST00000683367.1:c.2177-11094G>T	ENSP00000507780.1:n.2177-11094G>T
ENST00000683489.1:c.2291+1007G>T	ENSP00000508403.1:n.2291+1007G>T
ENST00000683680.1:c.2318+1007G>T	ENSP00000507223.1:n.2318+1007G>T
ENST00000684163.1:c.2203+6233G>T	ENSP00000508262.1:n.2203+6233G>T
ENST00000684196.1:n.4543-11094G>T
ENST00000684325.1:c.2185+13207G>T	ENSP00000508121.1:n.2185+13207G>T
ENST00000684385.1:c.2220+6233G>T	ENSP00000507855.1:n.2220+6233G>T
ENST00000684497.1:c.2185+13207G>T	ENSP00000507057.1:n.2185+13207G>T
ENST00000382292.9:c.3298G>T MANE Select	ENSP00000371729.3:p.Glu1100Ter
ENST00000423156.2:c.2186-11094G>T	ENSP00000390925.2:n.2186-11094G>T
ENST00000455470.6:c.2431+867G>T	ENSP00000406565.2:n.2431+867G>T
ENST00000382292.7:c.3298G>T	ENSP00000371729.3:p.Glu1100Ter
ENST00000382298.7:c.3298G>T	ENSP00000371735.3:p.Glu1100Ter
ENST00000402364.1:c.1048G>T	ENSP00000385844.1:p.Glu350Ter
ENST00000423156.1:c.1058-11094G>T	ENSP00000390925.1:n.1058-11094G>T
ENST00000455470.5:c.2129+867G>T
NM_001278055.1:c.2857G>T	NP_001264984.1:p.Glu953Ter
NM_014363.5:c.3298G>T	NP_055178.3:p.Glu1100Ter
XM_005266338.1:c.3325G>T	XP_005266395.1:p.Glu1109Ter
XM_011535038.1:c.3349G>T	XP_011533340.1:p.Glu1117Ter
XM_011535039.1:c.3316G>T	XP_011533341.1:p.Glu1106Ter
XM_005266338.2:c.3325G>T	XP_005266395.1:p.Glu1109Ter
XM_011535039.2:c.3316G>T	XP_011533341.1:p.Glu1106Ter
XM_017020539.1:c.3289G>T	XP_016876028.1:p.Glu1097Ter
XM_024449337.1:c.3325G>T	XP_024305105.1:p.Glu1109Ter
NM_014363.6:c.3298G>T MANE Select	NP_055178.3:p.Glu1100Ter
NM_001278055.2:c.2857G>T	NP_001264984.1:p.Glu953Ter