Canonical Allele Identifier: CA387535066

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23914546C>A (hg19) ; chr13:g.23340407C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340407C>A , CM000675.2:g.23340407C>A	GRCh38
NC_000013.10:g.23914546C>A , CM000675.1:g.23914546C>A	GRCh37
NC_000013.9:g.22812546C>A	NCBI36
NG_012342.1:g.98296G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13378G>T	ENSP00000508399.1:n.2185+13378G>T
ENST00000682944.1:c.3496G>T	ENSP00000507173.1:p.Val1166Phe
ENST00000683210.1:c.2185+13378G>T	ENSP00000506739.1:n.2185+13378G>T
ENST00000683270.1:c.3460G>T	ENSP00000507624.1:p.Val1154Phe
ENST00000683367.1:c.2177-10923G>T	ENSP00000507780.1:n.2177-10923G>T
ENST00000683489.1:c.2291+1178G>T	ENSP00000508403.1:n.2291+1178G>T
ENST00000683680.1:c.2318+1178G>T	ENSP00000507223.1:n.2318+1178G>T
ENST00000684163.1:c.2203+6404G>T	ENSP00000508262.1:n.2203+6404G>T
ENST00000684196.1:n.4543-10923G>T
ENST00000684325.1:c.2185+13378G>T	ENSP00000508121.1:n.2185+13378G>T
ENST00000684385.1:c.2220+6404G>T	ENSP00000507855.1:n.2220+6404G>T
ENST00000684497.1:c.2185+13378G>T	ENSP00000507057.1:n.2185+13378G>T
ENST00000382292.9:c.3469G>T MANE Select	ENSP00000371729.3:p.Val1157Phe
ENST00000423156.2:c.2186-10923G>T	ENSP00000390925.2:n.2186-10923G>T
ENST00000455470.6:c.2431+1038G>T	ENSP00000406565.2:n.2431+1038G>T
ENST00000382292.7:c.3469G>T	ENSP00000371729.3:p.Val1157Phe
ENST00000382298.7:c.3469G>T	ENSP00000371735.3:p.Val1157Phe
ENST00000402364.1:c.1219G>T	ENSP00000385844.1:p.Val407Phe
ENST00000423156.1:c.1058-10923G>T	ENSP00000390925.1:n.1058-10923G>T
ENST00000455470.5:c.2129+1038G>T
NM_001278055.1:c.3028G>T	NP_001264984.1:p.Val1010Phe
NM_014363.5:c.3469G>T	NP_055178.3:p.Val1157Phe
XM_005266338.1:c.3496G>T	XP_005266395.1:p.Val1166Phe
XM_011535038.1:c.3520G>T	XP_011533340.1:p.Val1174Phe
XM_011535039.1:c.3487G>T	XP_011533341.1:p.Val1163Phe
XM_005266338.2:c.3496G>T	XP_005266395.1:p.Val1166Phe
XM_011535039.2:c.3487G>T	XP_011533341.1:p.Val1163Phe
XM_017020539.1:c.3460G>T	XP_016876028.1:p.Val1154Phe
XM_024449337.1:c.3496G>T	XP_024305105.1:p.Val1166Phe
NM_014363.6:c.3469G>T MANE Select	NP_055178.3:p.Val1157Phe
NM_001278055.2:c.3028G>T	NP_001264984.1:p.Val1010Phe