Canonical Allele Identifier: CA387523516

Gene: SACS

Linked Data

• gnomAD v4: 13-23337602-G-T
• COSMIC: COSM1365918 ; COSM1365919
• MyVariant Identifiers: chr13:g.23911741G>T (hg19) ; chr13:g.23337602G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337602G>T , CM000675.2:g.23337602G>T	GRCh38
NC_000013.10:g.23911741G>T , CM000675.1:g.23911741G>T	GRCh37
NC_000013.9:g.22809741G>T	NCBI36
NG_012342.1:g.101101C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16183C>A	ENSP00000508399.1:n.2185+16183C>A
ENST00000682944.1:c.6301C>A	ENSP00000507173.1:p.Leu2101Ile
ENST00000683210.1:c.2185+16183C>A	ENSP00000506739.1:n.2185+16183C>A
ENST00000683270.1:c.6265C>A	ENSP00000507624.1:p.Leu2089Ile
ENST00000683367.1:c.2177-8118C>A	ENSP00000507780.1:n.2177-8118C>A
ENST00000683489.1:c.2291+3983C>A	ENSP00000508403.1:n.2291+3983C>A
ENST00000683680.1:c.2318+3983C>A	ENSP00000507223.1:n.2318+3983C>A
ENST00000684163.1:c.2204-8118C>A	ENSP00000508262.1:n.2204-8118C>A
ENST00000684196.1:n.4543-8118C>A
ENST00000684325.1:c.2186-15928C>A	ENSP00000508121.1:n.2186-15928C>A
ENST00000684385.1:c.2221-8118C>A	ENSP00000507855.1:n.2221-8118C>A
ENST00000684497.1:c.2186-14958C>A	ENSP00000507057.1:n.2186-14958C>A
ENST00000382292.9:c.6274C>A MANE Select	ENSP00000371729.3:p.Leu2092Ile
ENST00000423156.2:c.2186-8118C>A	ENSP00000390925.2:n.2186-8118C>A
ENST00000455470.6:c.2431+3843C>A	ENSP00000406565.2:n.2431+3843C>A
ENST00000382292.7:c.6274C>A	ENSP00000371729.3:p.Leu2092Ile
ENST00000382298.7:c.6274C>A	ENSP00000371735.3:p.Leu2092Ile
ENST00000402364.1:c.4024C>A	ENSP00000385844.1:p.Leu1342Ile
ENST00000423156.1:c.1058-8118C>A	ENSP00000390925.1:n.1058-8118C>A
ENST00000455470.5:c.2129+3843C>A
NM_001278055.1:c.5833C>A	NP_001264984.1:p.Leu1945Ile
NM_014363.5:c.6274C>A	NP_055178.3:p.Leu2092Ile
XM_005266338.1:c.6301C>A	XP_005266395.1:p.Leu2101Ile
XM_011535038.1:c.6325C>A	XP_011533340.1:p.Leu2109Ile
XM_011535039.1:c.6292C>A	XP_011533341.1:p.Leu2098Ile
XM_005266338.2:c.6301C>A	XP_005266395.1:p.Leu2101Ile
XM_011535039.2:c.6292C>A	XP_011533341.1:p.Leu2098Ile
XM_017020539.1:c.6265C>A	XP_016876028.1:p.Leu2089Ile
XM_024449337.1:c.6301C>A	XP_024305105.1:p.Leu2101Ile
NM_014363.6:c.6274C>A MANE Select	NP_055178.3:p.Leu2092Ile
NM_001278055.2:c.5833C>A	NP_001264984.1:p.Leu1945Ile