Canonical Allele Identifier: CA387527381

Gene: SACS

Linked Data

• ClinVar Variation Id: 1806979
• ClinVar RCV Id: RCV002474408
• MyVariant Identifiers: chr13:g.23913180C>G (hg19) ; chr13:g.23339041C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339041C>G , CM000675.2:g.23339041C>G	GRCh38
NC_000013.10:g.23913180C>G , CM000675.1:g.23913180C>G	GRCh37
NC_000013.9:g.22811180C>G	NCBI36
NG_012342.1:g.99662G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14744G>C	ENSP00000508399.1:n.2185+14744G>C
ENST00000682944.1:c.4862G>C	ENSP00000507173.1:p.Arg1621Thr
ENST00000683210.1:c.2185+14744G>C	ENSP00000506739.1:n.2185+14744G>C
ENST00000683270.1:c.4826G>C	ENSP00000507624.1:p.Arg1609Thr
ENST00000683367.1:c.2177-9557G>C	ENSP00000507780.1:n.2177-9557G>C
ENST00000683489.1:c.2291+2544G>C	ENSP00000508403.1:n.2291+2544G>C
ENST00000683680.1:c.2318+2544G>C	ENSP00000507223.1:n.2318+2544G>C
ENST00000684163.1:c.2203+7770G>C	ENSP00000508262.1:n.2203+7770G>C
ENST00000684196.1:n.4543-9557G>C
ENST00000684325.1:c.2185+14744G>C	ENSP00000508121.1:n.2185+14744G>C
ENST00000684385.1:c.2220+7770G>C	ENSP00000507855.1:n.2220+7770G>C
ENST00000684497.1:c.2185+14744G>C	ENSP00000507057.1:n.2185+14744G>C
ENST00000382292.9:c.4835G>C MANE Select	ENSP00000371729.3:p.Arg1612Thr
ENST00000423156.2:c.2186-9557G>C	ENSP00000390925.2:n.2186-9557G>C
ENST00000455470.6:c.2431+2404G>C	ENSP00000406565.2:n.2431+2404G>C
ENST00000382292.7:c.4835G>C	ENSP00000371729.3:p.Arg1612Thr
ENST00000382298.7:c.4835G>C	ENSP00000371735.3:p.Arg1612Thr
ENST00000402364.1:c.2585G>C	ENSP00000385844.1:p.Arg862Thr
ENST00000423156.1:c.1058-9557G>C	ENSP00000390925.1:n.1058-9557G>C
ENST00000455470.5:c.2129+2404G>C
NM_001278055.1:c.4394G>C	NP_001264984.1:p.Arg1465Thr
NM_014363.5:c.4835G>C	NP_055178.3:p.Arg1612Thr
XM_005266338.1:c.4862G>C	XP_005266395.1:p.Arg1621Thr
XM_011535038.1:c.4886G>C	XP_011533340.1:p.Arg1629Thr
XM_011535039.1:c.4853G>C	XP_011533341.1:p.Arg1618Thr
XM_005266338.2:c.4862G>C	XP_005266395.1:p.Arg1621Thr
XM_011535039.2:c.4853G>C	XP_011533341.1:p.Arg1618Thr
XM_017020539.1:c.4826G>C	XP_016876028.1:p.Arg1609Thr
XM_024449337.1:c.4862G>C	XP_024305105.1:p.Arg1621Thr
NM_014363.6:c.4835G>C MANE Select	NP_055178.3:p.Arg1612Thr
NM_001278055.2:c.4394G>C	NP_001264984.1:p.Arg1465Thr