Canonical Allele Identifier: CA387526086

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23912740T>G (hg19) ; chr13:g.23338601T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338601T>G , CM000675.2:g.23338601T>G	GRCh38
NC_000013.10:g.23912740T>G , CM000675.1:g.23912740T>G	GRCh37
NC_000013.9:g.22810740T>G	NCBI36
NG_012342.1:g.100102A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15184A>C	ENSP00000508399.1:n.2185+15184A>C
ENST00000682944.1:c.5302A>C	ENSP00000507173.1:p.Ile1768Leu
ENST00000683210.1:c.2185+15184A>C	ENSP00000506739.1:n.2185+15184A>C
ENST00000683270.1:c.5266A>C	ENSP00000507624.1:p.Ile1756Leu
ENST00000683367.1:c.2177-9117A>C	ENSP00000507780.1:n.2177-9117A>C
ENST00000683489.1:c.2291+2984A>C	ENSP00000508403.1:n.2291+2984A>C
ENST00000683680.1:c.2318+2984A>C	ENSP00000507223.1:n.2318+2984A>C
ENST00000684163.1:c.2203+8210A>C	ENSP00000508262.1:n.2203+8210A>C
ENST00000684196.1:n.4543-9117A>C
ENST00000684325.1:c.2185+15184A>C	ENSP00000508121.1:n.2185+15184A>C
ENST00000684385.1:c.2220+8210A>C	ENSP00000507855.1:n.2220+8210A>C
ENST00000684497.1:c.2185+15184A>C	ENSP00000507057.1:n.2185+15184A>C
ENST00000382292.9:c.5275A>C MANE Select	ENSP00000371729.3:p.Ile1759Leu
ENST00000423156.2:c.2186-9117A>C	ENSP00000390925.2:n.2186-9117A>C
ENST00000455470.6:c.2431+2844A>C	ENSP00000406565.2:n.2431+2844A>C
ENST00000382292.7:c.5275A>C	ENSP00000371729.3:p.Ile1759Leu
ENST00000382298.7:c.5275A>C	ENSP00000371735.3:p.Ile1759Leu
ENST00000402364.1:c.3025A>C	ENSP00000385844.1:p.Ile1009Leu
ENST00000423156.1:c.1058-9117A>C	ENSP00000390925.1:n.1058-9117A>C
ENST00000455470.5:c.2129+2844A>C
NM_001278055.1:c.4834A>C	NP_001264984.1:p.Ile1612Leu
NM_014363.5:c.5275A>C	NP_055178.3:p.Ile1759Leu
XM_005266338.1:c.5302A>C	XP_005266395.1:p.Ile1768Leu
XM_011535038.1:c.5326A>C	XP_011533340.1:p.Ile1776Leu
XM_011535039.1:c.5293A>C	XP_011533341.1:p.Ile1765Leu
XM_005266338.2:c.5302A>C	XP_005266395.1:p.Ile1768Leu
XM_011535039.2:c.5293A>C	XP_011533341.1:p.Ile1765Leu
XM_017020539.1:c.5266A>C	XP_016876028.1:p.Ile1756Leu
XM_024449337.1:c.5302A>C	XP_024305105.1:p.Ile1768Leu
NM_014363.6:c.5275A>C MANE Select	NP_055178.3:p.Ile1759Leu
NM_001278055.2:c.4834A>C	NP_001264984.1:p.Ile1612Leu