Canonical Allele Identifier: CA6911266

Gene: SACS

Linked Data

• ClinVar Variation Id: 2885752
• ClinVar RCV Id: RCV003750485
• dbSNP Id: rs754798395
• ExAC: 13:23912707 C / T
• gnomAD v2: 13-23912707-C-T
• gnomAD v4: 13-23338568-C-T
• MyVariant Identifiers: chr13:g.23912707C>T (hg19) ; chr13:g.23338568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338568C>T , CM000675.2:g.23338568C>T	GRCh38
NC_000013.10:g.23912707C>T , CM000675.1:g.23912707C>T	GRCh37
NC_000013.9:g.22810707C>T	NCBI36
NG_012342.1:g.100135G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15217G>A	ENSP00000508399.1:n.2185+15217G>A
ENST00000682944.1:c.5335G>A	ENSP00000507173.1:p.Val1779Met
ENST00000683210.1:c.2185+15217G>A	ENSP00000506739.1:n.2185+15217G>A
ENST00000683270.1:c.5299G>A	ENSP00000507624.1:p.Val1767Met
ENST00000683367.1:c.2177-9084G>A	ENSP00000507780.1:n.2177-9084G>A
ENST00000683489.1:c.2291+3017G>A	ENSP00000508403.1:n.2291+3017G>A
ENST00000683680.1:c.2318+3017G>A	ENSP00000507223.1:n.2318+3017G>A
ENST00000684163.1:c.2203+8243G>A	ENSP00000508262.1:n.2203+8243G>A
ENST00000684196.1:n.4543-9084G>A
ENST00000684325.1:c.2185+15217G>A	ENSP00000508121.1:n.2185+15217G>A
ENST00000684385.1:c.2220+8243G>A	ENSP00000507855.1:n.2220+8243G>A
ENST00000684497.1:c.2185+15217G>A	ENSP00000507057.1:n.2185+15217G>A
ENST00000382292.9:c.5308G>A MANE Select	ENSP00000371729.3:p.Val1770Met
ENST00000423156.2:c.2186-9084G>A	ENSP00000390925.2:n.2186-9084G>A
ENST00000455470.6:c.2431+2877G>A	ENSP00000406565.2:n.2431+2877G>A
ENST00000382292.7:c.5308G>A	ENSP00000371729.3:p.Val1770Met
ENST00000382298.7:c.5308G>A	ENSP00000371735.3:p.Val1770Met
ENST00000402364.1:c.3058G>A	ENSP00000385844.1:p.Val1020Met
ENST00000423156.1:c.1058-9084G>A	ENSP00000390925.1:n.1058-9084G>A
ENST00000455470.5:c.2129+2877G>A
NM_001278055.1:c.4867G>A	NP_001264984.1:p.Val1623Met
NM_014363.5:c.5308G>A	NP_055178.3:p.Val1770Met
XM_005266338.1:c.5335G>A	XP_005266395.1:p.Val1779Met
XM_011535038.1:c.5359G>A	XP_011533340.1:p.Val1787Met
XM_011535039.1:c.5326G>A	XP_011533341.1:p.Val1776Met
XM_005266338.2:c.5335G>A	XP_005266395.1:p.Val1779Met
XM_011535039.2:c.5326G>A	XP_011533341.1:p.Val1776Met
XM_017020539.1:c.5299G>A	XP_016876028.1:p.Val1767Met
XM_024449337.1:c.5335G>A	XP_024305105.1:p.Val1779Met
NM_014363.6:c.5308G>A MANE Select	NP_055178.3:p.Val1770Met
NM_001278055.2:c.4867G>A	NP_001264984.1:p.Val1623Met