Canonical Allele Identifier: CA483163320

Gene: SACS

Linked Data

• ClinVar Variation Id: 2120892
• ClinVar RCV Id: RCV003043081
• MyVariant Identifiers: chr13:g.23914466T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340327T>G , CM000675.2:g.23340327T>G	GRCh38
NC_000013.10:g.23914466T>G , CM000675.1:g.23914466T>G	GRCh37
NC_000013.9:g.22812466T>G	NCBI36
NG_012342.1:g.98376A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+13458A>C	ENSP00000508399.1:n.2185+13458A>C
ENST00000682944.1:c.3576A>C	ENSP00000507173.1:p.Pro1192=
ENST00000683210.1:c.2185+13458A>C	ENSP00000506739.1:n.2185+13458A>C
ENST00000683270.1:c.3540A>C	ENSP00000507624.1:p.Pro1180=
ENST00000683367.1:c.2177-10843A>C	ENSP00000507780.1:n.2177-10843A>C
ENST00000683489.1:c.2291+1258A>C	ENSP00000508403.1:n.2291+1258A>C
ENST00000683680.1:c.2318+1258A>C	ENSP00000507223.1:n.2318+1258A>C
ENST00000684163.1:c.2203+6484A>C	ENSP00000508262.1:n.2203+6484A>C
ENST00000684196.1:n.4543-10843A>C
ENST00000684325.1:c.2185+13458A>C	ENSP00000508121.1:n.2185+13458A>C
ENST00000684385.1:c.2220+6484A>C	ENSP00000507855.1:n.2220+6484A>C
ENST00000684497.1:c.2185+13458A>C	ENSP00000507057.1:n.2185+13458A>C
ENST00000382292.9:c.3549A>C MANE Select	ENSP00000371729.3:p.Pro1183=
ENST00000423156.2:c.2186-10843A>C	ENSP00000390925.2:n.2186-10843A>C
ENST00000455470.6:c.2431+1118A>C	ENSP00000406565.2:n.2431+1118A>C
ENST00000382292.7:c.3549A>C	ENSP00000371729.3:p.Pro1183=
ENST00000382298.7:c.3549A>C	ENSP00000371735.3:p.Pro1183=
ENST00000402364.1:c.1299A>C	ENSP00000385844.1:p.Pro433=
ENST00000423156.1:c.1058-10843A>C	ENSP00000390925.1:n.1058-10843A>C
ENST00000455470.5:c.2129+1118A>C
NM_001278055.1:c.3108A>C	NP_001264984.1:p.Pro1036=
NM_014363.5:c.3549A>C	NP_055178.3:p.Pro1183=
XM_005266338.1:c.3576A>C	XP_005266395.1:p.Pro1192=
XM_011535038.1:c.3600A>C	XP_011533340.1:p.Pro1200=
XM_011535039.1:c.3567A>C	XP_011533341.1:p.Pro1189=
XM_005266338.2:c.3576A>C	XP_005266395.1:p.Pro1192=
XM_011535039.2:c.3567A>C	XP_011533341.1:p.Pro1189=
XM_017020539.1:c.3540A>C	XP_016876028.1:p.Pro1180=
XM_024449337.1:c.3576A>C	XP_024305105.1:p.Pro1192=
NM_014363.6:c.3549A>C MANE Select	NP_055178.3:p.Pro1183=
NM_001278055.2:c.3108A>C	NP_001264984.1:p.Pro1036=