Canonical Allele Identifier: CA6911115

Gene: SACS

Linked Data

• ClinVar Variation Id: 2892958
• ClinVar RCV Id: RCV003750599
• dbSNP Id: rs763841642
• ExAC: 13:23911789 A / C
• gnomAD v2: 13-23911789-A-C
• gnomAD v4: 13-23337650-A-C
• MyVariant Identifiers: chr13:g.23911789A>C (hg19) ; chr13:g.23337650A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337650A>C , CM000675.2:g.23337650A>C	GRCh38
NC_000013.10:g.23911789A>C , CM000675.1:g.23911789A>C	GRCh37
NC_000013.9:g.22809789A>C	NCBI36
NG_012342.1:g.101053T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16135T>G	ENSP00000508399.1:n.2185+16135T>G
ENST00000682944.1:c.6253T>G	ENSP00000507173.1:p.Leu2085Val
ENST00000683210.1:c.2185+16135T>G	ENSP00000506739.1:n.2185+16135T>G
ENST00000683270.1:c.6217T>G	ENSP00000507624.1:p.Leu2073Val
ENST00000683367.1:c.2177-8166T>G	ENSP00000507780.1:n.2177-8166T>G
ENST00000683489.1:c.2291+3935T>G	ENSP00000508403.1:n.2291+3935T>G
ENST00000683680.1:c.2318+3935T>G	ENSP00000507223.1:n.2318+3935T>G
ENST00000684163.1:c.2204-8166T>G	ENSP00000508262.1:n.2204-8166T>G
ENST00000684196.1:n.4543-8166T>G
ENST00000684325.1:c.2186-15976T>G	ENSP00000508121.1:n.2186-15976T>G
ENST00000684385.1:c.2221-8166T>G	ENSP00000507855.1:n.2221-8166T>G
ENST00000684497.1:c.2186-15006T>G	ENSP00000507057.1:n.2186-15006T>G
ENST00000382292.9:c.6226T>G MANE Select	ENSP00000371729.3:p.Leu2076Val
ENST00000423156.2:c.2186-8166T>G	ENSP00000390925.2:n.2186-8166T>G
ENST00000455470.6:c.2431+3795T>G	ENSP00000406565.2:n.2431+3795T>G
ENST00000382292.7:c.6226T>G	ENSP00000371729.3:p.Leu2076Val
ENST00000382298.7:c.6226T>G	ENSP00000371735.3:p.Leu2076Val
ENST00000402364.1:c.3976T>G	ENSP00000385844.1:p.Leu1326Val
ENST00000423156.1:c.1058-8166T>G	ENSP00000390925.1:n.1058-8166T>G
ENST00000455470.5:c.2129+3795T>G
NM_001278055.1:c.5785T>G	NP_001264984.1:p.Leu1929Val
NM_014363.5:c.6226T>G	NP_055178.3:p.Leu2076Val
XM_005266338.1:c.6253T>G	XP_005266395.1:p.Leu2085Val
XM_011535038.1:c.6277T>G	XP_011533340.1:p.Leu2093Val
XM_011535039.1:c.6244T>G	XP_011533341.1:p.Leu2082Val
XM_005266338.2:c.6253T>G	XP_005266395.1:p.Leu2085Val
XM_011535039.2:c.6244T>G	XP_011533341.1:p.Leu2082Val
XM_017020539.1:c.6217T>G	XP_016876028.1:p.Leu2073Val
XM_024449337.1:c.6253T>G	XP_024305105.1:p.Leu2085Val
NM_014363.6:c.6226T>G MANE Select	NP_055178.3:p.Leu2076Val
NM_001278055.2:c.5785T>G	NP_001264984.1:p.Leu1929Val