Canonical Allele Identifier: CA387508978

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23906131T>G (hg19) ; chr13:g.23331992T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331992T>G , CM000675.2:g.23331992T>G	GRCh38
NC_000013.10:g.23906131T>G , CM000675.1:g.23906131T>G	GRCh37
NC_000013.9:g.22804131T>G	NCBI36
NG_012342.1:g.106711A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19877A>C	ENSP00000508399.1:n.2186-19877A>C
ENST00000682944.1:c.11911A>C	ENSP00000507173.1:p.Ile3971Leu
ENST00000683210.1:c.2185+21793A>C	ENSP00000506739.1:n.2185+21793A>C
ENST00000683270.1:c.6446-2508A>C	ENSP00000507624.1:n.6446-2508A>C
ENST00000683367.1:c.2177-2508A>C	ENSP00000507780.1:n.2177-2508A>C
ENST00000683489.1:c.2292-2040A>C	ENSP00000508403.1:n.2292-2040A>C
ENST00000683680.1:c.2319-2040A>C	ENSP00000507223.1:n.2319-2040A>C
ENST00000684163.1:c.2204-2508A>C	ENSP00000508262.1:n.2204-2508A>C
ENST00000684196.1:n.4543-2508A>C
ENST00000684325.1:c.2186-10318A>C	ENSP00000508121.1:n.2186-10318A>C
ENST00000684385.1:c.2221-2508A>C	ENSP00000507855.1:n.2221-2508A>C
ENST00000684497.1:c.2186-9348A>C	ENSP00000507057.1:n.2186-9348A>C
ENST00000382292.9:c.11884A>C MANE Select	ENSP00000371729.3:p.Ile3962Leu
ENST00000423156.2:c.2186-2508A>C	ENSP00000390925.2:n.2186-2508A>C
ENST00000455470.6:c.2432-2508A>C	ENSP00000406565.2:n.2432-2508A>C
ENST00000382292.7:c.11884A>C	ENSP00000371729.3:p.Ile3962Leu
ENST00000382298.7:c.11884A>C	ENSP00000371735.3:p.Ile3962Leu
ENST00000402364.1:c.9634A>C	ENSP00000385844.1:p.Ile3212Leu
ENST00000423156.1:c.1058-2508A>C	ENSP00000390925.1:n.1058-2508A>C
ENST00000455470.5:c.2130-2508A>C
NM_001278055.1:c.11443A>C	NP_001264984.1:p.Ile3815Leu
NM_014363.5:c.11884A>C	NP_055178.3:p.Ile3962Leu
XM_005266338.1:c.11911A>C	XP_005266395.1:p.Ile3971Leu
XM_011535038.1:c.11935A>C	XP_011533340.1:p.Ile3979Leu
XM_011535039.1:c.11902A>C	XP_011533341.1:p.Ile3968Leu
XM_005266338.2:c.11911A>C	XP_005266395.1:p.Ile3971Leu
XM_011535039.2:c.11902A>C	XP_011533341.1:p.Ile3968Leu
XM_017020539.1:c.11875A>C	XP_016876028.1:p.Ile3959Leu
XM_024449337.1:c.11911A>C	XP_024305105.1:p.Ile3971Leu
NM_014363.6:c.11884A>C MANE Select	NP_055178.3:p.Ile3962Leu
NM_001278055.2:c.11443A>C	NP_001264984.1:p.Ile3815Leu