Canonical Allele Identifier: CA6911121

Gene: SACS

Linked Data

• ClinVar Variation Id: 586435
• ClinVar RCV Id: RCV000712980 ; RCV001830584 ; RCV002534514 ; RCV002534515
• dbSNP Id: rs373226693
• ExAC: 13:23911837 C / G
• gnomAD v2: 13-23911837-C-G
• gnomAD v3: 13-23337698-C-G
• gnomAD v4: 13-23337698-C-G
• MyVariant Identifiers: chr13:g.23911837C>G (hg19) ; chr13:g.23337698C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337698C>G , CM000675.2:g.23337698C>G	GRCh38
NC_000013.10:g.23911837C>G , CM000675.1:g.23911837C>G	GRCh37
NC_000013.9:g.22809837C>G	NCBI36
NG_012342.1:g.101005G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16087G>C	ENSP00000508399.1:n.2185+16087G>C
ENST00000682944.1:c.6205G>C	ENSP00000507173.1:p.Val2069Leu
ENST00000683210.1:c.2185+16087G>C	ENSP00000506739.1:n.2185+16087G>C
ENST00000683270.1:c.6169G>C	ENSP00000507624.1:p.Val2057Leu
ENST00000683367.1:c.2177-8214G>C	ENSP00000507780.1:n.2177-8214G>C
ENST00000683489.1:c.2291+3887G>C	ENSP00000508403.1:n.2291+3887G>C
ENST00000683680.1:c.2318+3887G>C	ENSP00000507223.1:n.2318+3887G>C
ENST00000684163.1:c.2204-8214G>C	ENSP00000508262.1:n.2204-8214G>C
ENST00000684196.1:n.4543-8214G>C
ENST00000684325.1:c.2186-16024G>C	ENSP00000508121.1:n.2186-16024G>C
ENST00000684385.1:c.2221-8214G>C	ENSP00000507855.1:n.2221-8214G>C
ENST00000684497.1:c.2186-15054G>C	ENSP00000507057.1:n.2186-15054G>C
ENST00000382292.9:c.6178G>C MANE Select	ENSP00000371729.3:p.Val2060Leu
ENST00000423156.2:c.2186-8214G>C	ENSP00000390925.2:n.2186-8214G>C
ENST00000455470.6:c.2431+3747G>C	ENSP00000406565.2:n.2431+3747G>C
ENST00000382292.7:c.6178G>C	ENSP00000371729.3:p.Val2060Leu
ENST00000382298.7:c.6178G>C	ENSP00000371735.3:p.Val2060Leu
ENST00000402364.1:c.3928G>C	ENSP00000385844.1:p.Val1310Leu
ENST00000423156.1:c.1058-8214G>C	ENSP00000390925.1:n.1058-8214G>C
ENST00000455470.5:c.2129+3747G>C
NM_001278055.1:c.5737G>C	NP_001264984.1:p.Val1913Leu
NM_014363.5:c.6178G>C	NP_055178.3:p.Val2060Leu
XM_005266338.1:c.6205G>C	XP_005266395.1:p.Val2069Leu
XM_011535038.1:c.6229G>C	XP_011533340.1:p.Val2077Leu
XM_011535039.1:c.6196G>C	XP_011533341.1:p.Val2066Leu
XM_005266338.2:c.6205G>C	XP_005266395.1:p.Val2069Leu
XM_011535039.2:c.6196G>C	XP_011533341.1:p.Val2066Leu
XM_017020539.1:c.6169G>C	XP_016876028.1:p.Val2057Leu
XM_024449337.1:c.6205G>C	XP_024305105.1:p.Val2069Leu
NM_014363.6:c.6178G>C MANE Select	NP_055178.3:p.Val2060Leu
NM_001278055.2:c.5737G>C	NP_001264984.1:p.Val1913Leu