Canonical Allele Identifier: CA387519922

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23910862G>T (hg19) ; chr13:g.23336723G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336723G>T , CM000675.2:g.23336723G>T	GRCh38
NC_000013.10:g.23910862G>T , CM000675.1:g.23910862G>T	GRCh37
NC_000013.9:g.22808862G>T	NCBI36
NG_012342.1:g.101980C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+17062C>A	ENSP00000508399.1:n.2185+17062C>A
ENST00000682944.1:c.7180C>A	ENSP00000507173.1:p.Leu2394Ile
ENST00000683210.1:c.2185+17062C>A	ENSP00000506739.1:n.2185+17062C>A
ENST00000683270.1:c.6445+699C>A	ENSP00000507624.1:n.6445+699C>A
ENST00000683367.1:c.2177-7239C>A	ENSP00000507780.1:n.2177-7239C>A
ENST00000683489.1:c.2291+4862C>A	ENSP00000508403.1:n.2291+4862C>A
ENST00000683680.1:c.2318+4862C>A	ENSP00000507223.1:n.2318+4862C>A
ENST00000684163.1:c.2204-7239C>A	ENSP00000508262.1:n.2204-7239C>A
ENST00000684196.1:n.4543-7239C>A
ENST00000684325.1:c.2186-15049C>A	ENSP00000508121.1:n.2186-15049C>A
ENST00000684385.1:c.2221-7239C>A	ENSP00000507855.1:n.2221-7239C>A
ENST00000684497.1:c.2186-14079C>A	ENSP00000507057.1:n.2186-14079C>A
ENST00000382292.9:c.7153C>A MANE Select	ENSP00000371729.3:p.Leu2385Ile
ENST00000423156.2:c.2186-7239C>A	ENSP00000390925.2:n.2186-7239C>A
ENST00000455470.6:c.2431+4722C>A	ENSP00000406565.2:n.2431+4722C>A
ENST00000382292.7:c.7153C>A	ENSP00000371729.3:p.Leu2385Ile
ENST00000382298.7:c.7153C>A	ENSP00000371735.3:p.Leu2385Ile
ENST00000402364.1:c.4903C>A	ENSP00000385844.1:p.Leu1635Ile
ENST00000423156.1:c.1058-7239C>A	ENSP00000390925.1:n.1058-7239C>A
ENST00000455470.5:c.2129+4722C>A
NM_001278055.1:c.6712C>A	NP_001264984.1:p.Leu2238Ile
NM_014363.5:c.7153C>A	NP_055178.3:p.Leu2385Ile
XM_005266338.1:c.7180C>A	XP_005266395.1:p.Leu2394Ile
XM_011535038.1:c.7204C>A	XP_011533340.1:p.Leu2402Ile
XM_011535039.1:c.7171C>A	XP_011533341.1:p.Leu2391Ile
XM_005266338.2:c.7180C>A	XP_005266395.1:p.Leu2394Ile
XM_011535039.2:c.7171C>A	XP_011533341.1:p.Leu2391Ile
XM_017020539.1:c.7144C>A	XP_016876028.1:p.Leu2382Ile
XM_024449337.1:c.7180C>A	XP_024305105.1:p.Leu2394Ile
NM_014363.6:c.7153C>A MANE Select	NP_055178.3:p.Leu2385Ile
NM_001278055.2:c.6712C>A	NP_001264984.1:p.Leu2238Ile