Canonical Allele Identifier: CA387517448

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678565
• ClinVar RCV Id: RCV003466375
• MyVariant Identifiers: chr13:g.23909944T>A (hg19) ; chr13:g.23335805T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335805T>A , CM000675.2:g.23335805T>A	GRCh38
NC_000013.10:g.23909944T>A , CM000675.1:g.23909944T>A	GRCh37
NC_000013.9:g.22807944T>A	NCBI36
NG_012342.1:g.102898A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17980A>T	ENSP00000508399.1:n.2185+17980A>T
ENST00000682944.1:c.8098A>T	ENSP00000507173.1:p.Lys2700Ter
ENST00000683210.1:c.2185+17980A>T	ENSP00000506739.1:n.2185+17980A>T
ENST00000683270.1:c.6445+1617A>T	ENSP00000507624.1:n.6445+1617A>T
ENST00000683367.1:c.2177-6321A>T	ENSP00000507780.1:n.2177-6321A>T
ENST00000683489.1:c.2291+5780A>T	ENSP00000508403.1:n.2291+5780A>T
ENST00000683680.1:c.2318+5780A>T	ENSP00000507223.1:n.2318+5780A>T
ENST00000684163.1:c.2204-6321A>T	ENSP00000508262.1:n.2204-6321A>T
ENST00000684196.1:n.4543-6321A>T
ENST00000684325.1:c.2186-14131A>T	ENSP00000508121.1:n.2186-14131A>T
ENST00000684385.1:c.2221-6321A>T	ENSP00000507855.1:n.2221-6321A>T
ENST00000684497.1:c.2186-13161A>T	ENSP00000507057.1:n.2186-13161A>T
ENST00000382292.9:c.8071A>T MANE Select	ENSP00000371729.3:p.Lys2691Ter
ENST00000423156.2:c.2186-6321A>T	ENSP00000390925.2:n.2186-6321A>T
ENST00000455470.6:c.2431+5640A>T	ENSP00000406565.2:n.2431+5640A>T
ENST00000382292.7:c.8071A>T	ENSP00000371729.3:p.Lys2691Ter
ENST00000382298.7:c.8071A>T	ENSP00000371735.3:p.Lys2691Ter
ENST00000402364.1:c.5821A>T	ENSP00000385844.1:p.Lys1941Ter
ENST00000423156.1:c.1058-6321A>T	ENSP00000390925.1:n.1058-6321A>T
ENST00000455470.5:c.2129+5640A>T
NM_001278055.1:c.7630A>T	NP_001264984.1:p.Lys2544Ter
NM_014363.5:c.8071A>T	NP_055178.3:p.Lys2691Ter
XM_005266338.1:c.8098A>T	XP_005266395.1:p.Lys2700Ter
XM_011535038.1:c.8122A>T	XP_011533340.1:p.Lys2708Ter
XM_011535039.1:c.8089A>T	XP_011533341.1:p.Lys2697Ter
XM_005266338.2:c.8098A>T	XP_005266395.1:p.Lys2700Ter
XM_011535039.2:c.8089A>T	XP_011533341.1:p.Lys2697Ter
XM_017020539.1:c.8062A>T	XP_016876028.1:p.Lys2688Ter
XM_024449337.1:c.8098A>T	XP_024305105.1:p.Lys2700Ter
NM_014363.6:c.8071A>T MANE Select	NP_055178.3:p.Lys2691Ter
NM_001278055.2:c.7630A>T	NP_001264984.1:p.Lys2544Ter