Canonical Allele Identifier: CA387549611

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23929510A>T (hg19) ; chr13:g.23355371A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355371A>T , CM000675.2:g.23355371A>T	GRCh38
NC_000013.10:g.23929510A>T , CM000675.1:g.23929510A>T	GRCh37
NC_000013.9:g.22827510A>T	NCBI36
NG_012342.1:g.83332T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1241T>A	ENSP00000508399.1:p.Leu414Gln
ENST00000682944.1:c.1241T>A	ENSP00000507173.1:p.Leu414Gln
ENST00000683154.1:n.1379T>A
ENST00000683210.1:c.1241T>A	ENSP00000506739.1:p.Leu414Gln
ENST00000683270.1:c.1232T>A	ENSP00000507624.1:p.Leu411Gln
ENST00000683367.1:c.1232T>A	ENSP00000507780.1:p.Leu411Gln
ENST00000683489.1:c.1241T>A	ENSP00000508403.1:p.Leu414Gln
ENST00000683680.1:c.1241T>A	ENSP00000507223.1:p.Leu414Gln
ENST00000684163.1:c.1232T>A	ENSP00000508262.1:p.Leu411Gln
ENST00000684196.1:n.3598T>A
ENST00000684325.1:c.1241T>A	ENSP00000508121.1:p.Leu414Gln
ENST00000684385.1:c.1241T>A	ENSP00000507855.1:p.Leu414Gln
ENST00000684497.1:c.1241T>A	ENSP00000507057.1:p.Leu414Gln
ENST00000382292.9:c.1241T>A MANE Select	ENSP00000371729.3:p.Leu414Gln
ENST00000423156.2:c.1241T>A	ENSP00000390925.2:p.Leu414Gln
ENST00000455470.6:c.1241T>A	ENSP00000406565.2:p.Leu414Gln
ENST00000382292.7:c.1241T>A	ENSP00000371729.3:p.Leu414Gln
ENST00000382298.7:c.1241T>A	ENSP00000371735.3:p.Leu414Gln
ENST00000402364.1:c.-1010T>A	ENSP00000385844.1:n.-1010T>A
ENST00000423156.1:c.113T>A	ENSP00000390925.1:p.Leu38Gln
ENST00000455470.5:c.939T>A
NM_001278055.1:c.800T>A	NP_001264984.1:p.Leu267Gln
NM_014363.5:c.1241T>A	NP_055178.3:p.Leu414Gln
XM_005266338.1:c.1241T>A	XP_005266395.1:p.Leu414Gln
XM_011535038.1:c.1265T>A	XP_011533340.1:p.Leu422Gln
XM_011535039.1:c.1232T>A	XP_011533341.1:p.Leu411Gln
XM_005266338.2:c.1241T>A	XP_005266395.1:p.Leu414Gln
XM_011535039.2:c.1232T>A	XP_011533341.1:p.Leu411Gln
XM_017020539.1:c.1232T>A	XP_016876028.1:p.Leu411Gln
XM_024449337.1:c.1241T>A	XP_024305105.1:p.Leu414Gln
NM_014363.6:c.1241T>A MANE Select	NP_055178.3:p.Leu414Gln
NM_001278055.2:c.800T>A	NP_001264984.1:p.Leu267Gln