Canonical Allele Identifier: CA387521617

Gene: SACS

Linked Data

• ClinVar Variation Id: 2663505
• ClinVar RCV Id: RCV003442693
• gnomAD v4: 13-23337374-C-A
• MyVariant Identifiers: chr13:g.23911513C>A (hg19) ; chr13:g.23337374C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337374C>A , CM000675.2:g.23337374C>A	GRCh38
NC_000013.10:g.23911513C>A , CM000675.1:g.23911513C>A	GRCh37
NC_000013.9:g.22809513C>A	NCBI36
NG_012342.1:g.101329G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16411G>T	ENSP00000508399.1:n.2185+16411G>T
ENST00000682944.1:c.6529G>T	ENSP00000507173.1:p.Val2177Leu
ENST00000683210.1:c.2185+16411G>T	ENSP00000506739.1:n.2185+16411G>T
ENST00000683270.1:c.6445+48G>T	ENSP00000507624.1:n.6445+48G>T
ENST00000683367.1:c.2177-7890G>T	ENSP00000507780.1:n.2177-7890G>T
ENST00000683489.1:c.2291+4211G>T	ENSP00000508403.1:n.2291+4211G>T
ENST00000683680.1:c.2318+4211G>T	ENSP00000507223.1:n.2318+4211G>T
ENST00000684163.1:c.2204-7890G>T	ENSP00000508262.1:n.2204-7890G>T
ENST00000684196.1:n.4543-7890G>T
ENST00000684325.1:c.2186-15700G>T	ENSP00000508121.1:n.2186-15700G>T
ENST00000684385.1:c.2221-7890G>T	ENSP00000507855.1:n.2221-7890G>T
ENST00000684497.1:c.2186-14730G>T	ENSP00000507057.1:n.2186-14730G>T
ENST00000382292.9:c.6502G>T MANE Select	ENSP00000371729.3:p.Val2168Leu
ENST00000423156.2:c.2186-7890G>T	ENSP00000390925.2:n.2186-7890G>T
ENST00000455470.6:c.2431+4071G>T	ENSP00000406565.2:n.2431+4071G>T
ENST00000382292.7:c.6502G>T	ENSP00000371729.3:p.Val2168Leu
ENST00000382298.7:c.6502G>T	ENSP00000371735.3:p.Val2168Leu
ENST00000402364.1:c.4252G>T	ENSP00000385844.1:p.Val1418Leu
ENST00000423156.1:c.1058-7890G>T	ENSP00000390925.1:n.1058-7890G>T
ENST00000455470.5:c.2129+4071G>T
NM_001278055.1:c.6061G>T	NP_001264984.1:p.Val2021Leu
NM_014363.5:c.6502G>T	NP_055178.3:p.Val2168Leu
XM_005266338.1:c.6529G>T	XP_005266395.1:p.Val2177Leu
XM_011535038.1:c.6553G>T	XP_011533340.1:p.Val2185Leu
XM_011535039.1:c.6520G>T	XP_011533341.1:p.Val2174Leu
XM_005266338.2:c.6529G>T	XP_005266395.1:p.Val2177Leu
XM_011535039.2:c.6520G>T	XP_011533341.1:p.Val2174Leu
XM_017020539.1:c.6493G>T	XP_016876028.1:p.Val2165Leu
XM_024449337.1:c.6529G>T	XP_024305105.1:p.Val2177Leu
NM_014363.6:c.6502G>T MANE Select	NP_055178.3:p.Val2168Leu
NM_001278055.2:c.6061G>T	NP_001264984.1:p.Val2021Leu