Canonical Allele Identifier: CA2078658050

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23354958G= , CM000675.2:g.23354958G=	GRCh38
NC_000013.10:g.23929097G= , CM000675.1:g.23929097G=	GRCh37
NC_000013.9:g.22827097G=	NCBI36
NG_012342.1:g.83745C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1654C=	ENSP00000508399.1:p.Leu552=
ENST00000682944.1:c.1654C=	ENSP00000507173.1:p.Leu552=
ENST00000683154.1:n.1792C=
ENST00000683210.1:c.1654C=	ENSP00000506739.1:p.Leu552=
ENST00000683270.1:c.1645C=	ENSP00000507624.1:p.Leu549=
ENST00000683367.1:c.1645C=	ENSP00000507780.1:p.Leu549=
ENST00000683489.1:c.1654C=	ENSP00000508403.1:p.Leu552=
ENST00000683680.1:c.1654C=	ENSP00000507223.1:p.Leu552=
ENST00000684163.1:c.1645C=	ENSP00000508262.1:p.Leu549=
ENST00000684196.1:n.4011C=
ENST00000684325.1:c.1654C=	ENSP00000508121.1:p.Leu552=
ENST00000684385.1:c.1654C=	ENSP00000507855.1:p.Leu552=
ENST00000684497.1:c.1654C=	ENSP00000507057.1:p.Leu552=
ENST00000382292.9:c.1654C= MANE Select	ENSP00000371729.3:p.Leu552=
ENST00000423156.2:c.1654C=	ENSP00000390925.2:p.Leu552=
ENST00000455470.6:c.1654C=	ENSP00000406565.2:p.Leu552=
ENST00000382292.7:c.1654C=	ENSP00000371729.3:p.Leu552=
ENST00000382298.7:c.1654C=	ENSP00000371735.3:p.Leu552=
ENST00000402364.1:c.-597C=	ENSP00000385844.1:n.-597C=
ENST00000423156.1:c.526C=	ENSP00000390925.1:p.Leu176=
ENST00000455470.5:c.1352C=
NM_001278055.1:c.1213C=	NP_001264984.1:p.Leu405=
NM_014363.5:c.1654C=	NP_055178.3:p.Leu552=
XM_005266338.1:c.1654C=	XP_005266395.1:p.Leu552=
XM_011535038.1:c.1678C=	XP_011533340.1:p.Leu560=
XM_011535039.1:c.1645C=	XP_011533341.1:p.Leu549=
XM_005266338.2:c.1654C=	XP_005266395.1:p.Leu552=
XM_011535039.2:c.1645C=	XP_011533341.1:p.Leu549=
XM_017020539.1:c.1645C=	XP_016876028.1:p.Leu549=
XM_024449337.1:c.1654C=	XP_024305105.1:p.Leu552=
NM_014363.6:c.1654C= MANE Select	NP_055178.3:p.Leu552=
NM_001278055.2:c.1213C=	NP_001264984.1:p.Leu405=