Canonical Allele Identifier: CA387539460

Gene: SACS

Linked Data

• ClinVar Variation Id: 1476433
• ClinVar RCV Id: RCV001977948
• dbSNP Id: rs2137645196
• COSMIC: COSM946074 ; COSM1586910
• MyVariant Identifiers: chr13:g.23915703C>A (hg19) ; chr13:g.23341564C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341564C>A , CM000675.2:g.23341564C>A	GRCh38
NC_000013.10:g.23915703C>A , CM000675.1:g.23915703C>A	GRCh37
NC_000013.9:g.22813703C>A	NCBI36
NG_012342.1:g.97139G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12221G>T	ENSP00000508399.1:n.2185+12221G>T
ENST00000682944.1:c.2339G>T	ENSP00000507173.1:p.Arg780Ile
ENST00000683210.1:c.2185+12221G>T	ENSP00000506739.1:n.2185+12221G>T
ENST00000683270.1:c.2303G>T	ENSP00000507624.1:p.Arg768Ile
ENST00000683367.1:c.2177-12080G>T	ENSP00000507780.1:n.2177-12080G>T
ENST00000683489.1:c.2291+21G>T	ENSP00000508403.1:n.2291+21G>T
ENST00000683680.1:c.2318+21G>T	ENSP00000507223.1:n.2318+21G>T
ENST00000684163.1:c.2203+5247G>T	ENSP00000508262.1:n.2203+5247G>T
ENST00000684196.1:n.4543-12080G>T
ENST00000684325.1:c.2185+12221G>T	ENSP00000508121.1:n.2185+12221G>T
ENST00000684385.1:c.2220+5247G>T	ENSP00000507855.1:n.2220+5247G>T
ENST00000684497.1:c.2185+12221G>T	ENSP00000507057.1:n.2185+12221G>T
ENST00000382292.9:c.2312G>T MANE Select	ENSP00000371729.3:p.Arg771Ile
ENST00000423156.2:c.2186-12080G>T	ENSP00000390925.2:n.2186-12080G>T
ENST00000455470.6:c.2312G>T	ENSP00000406565.2:p.Arg771Ile
ENST00000382292.7:c.2312G>T	ENSP00000371729.3:p.Arg771Ile
ENST00000382298.7:c.2312G>T	ENSP00000371735.3:p.Arg771Ile
ENST00000402364.1:c.62G>T	ENSP00000385844.1:p.Arg21Ile
ENST00000423156.1:c.1058-12080G>T	ENSP00000390925.1:n.1058-12080G>T
ENST00000455470.5:c.2010G>T
NM_001278055.1:c.1871G>T	NP_001264984.1:p.Arg624Ile
NM_014363.5:c.2312G>T	NP_055178.3:p.Arg771Ile
XM_005266338.1:c.2339G>T	XP_005266395.1:p.Arg780Ile
XM_011535038.1:c.2363G>T	XP_011533340.1:p.Arg788Ile
XM_011535039.1:c.2330G>T	XP_011533341.1:p.Arg777Ile
XM_005266338.2:c.2339G>T	XP_005266395.1:p.Arg780Ile
XM_011535039.2:c.2330G>T	XP_011533341.1:p.Arg777Ile
XM_017020539.1:c.2303G>T	XP_016876028.1:p.Arg768Ile
XM_024449337.1:c.2339G>T	XP_024305105.1:p.Arg780Ile
NM_014363.6:c.2312G>T MANE Select	NP_055178.3:p.Arg771Ile
NM_001278055.2:c.1871G>T	NP_001264984.1:p.Arg624Ile