Canonical Allele Identifier: CA483161726

Gene: SACS

Linked Data

• COSMIC: COSM946042 ; COSM1586940
• MyVariant Identifiers: chr13:g.23911754C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337615C>T , CM000675.2:g.23337615C>T	GRCh38
NC_000013.10:g.23911754C>T , CM000675.1:g.23911754C>T	GRCh37
NC_000013.9:g.22809754C>T	NCBI36
NG_012342.1:g.101088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16170G>A	ENSP00000508399.1:n.2185+16170G>A
ENST00000682944.1:c.6288G>A	ENSP00000507173.1:p.Glu2096=
ENST00000683210.1:c.2185+16170G>A	ENSP00000506739.1:n.2185+16170G>A
ENST00000683270.1:c.6252G>A	ENSP00000507624.1:p.Glu2084=
ENST00000683367.1:c.2177-8131G>A	ENSP00000507780.1:n.2177-8131G>A
ENST00000683489.1:c.2291+3970G>A	ENSP00000508403.1:n.2291+3970G>A
ENST00000683680.1:c.2318+3970G>A	ENSP00000507223.1:n.2318+3970G>A
ENST00000684163.1:c.2204-8131G>A	ENSP00000508262.1:n.2204-8131G>A
ENST00000684196.1:n.4543-8131G>A
ENST00000684325.1:c.2186-15941G>A	ENSP00000508121.1:n.2186-15941G>A
ENST00000684385.1:c.2221-8131G>A	ENSP00000507855.1:n.2221-8131G>A
ENST00000684497.1:c.2186-14971G>A	ENSP00000507057.1:n.2186-14971G>A
ENST00000382292.9:c.6261G>A MANE Select	ENSP00000371729.3:p.Glu2087=
ENST00000423156.2:c.2186-8131G>A	ENSP00000390925.2:n.2186-8131G>A
ENST00000455470.6:c.2431+3830G>A	ENSP00000406565.2:n.2431+3830G>A
ENST00000382292.7:c.6261G>A	ENSP00000371729.3:p.Glu2087=
ENST00000382298.7:c.6261G>A	ENSP00000371735.3:p.Glu2087=
ENST00000402364.1:c.4011G>A	ENSP00000385844.1:p.Glu1337=
ENST00000423156.1:c.1058-8131G>A	ENSP00000390925.1:n.1058-8131G>A
ENST00000455470.5:c.2129+3830G>A
NM_001278055.1:c.5820G>A	NP_001264984.1:p.Glu1940=
NM_014363.5:c.6261G>A	NP_055178.3:p.Glu2087=
XM_005266338.1:c.6288G>A	XP_005266395.1:p.Glu2096=
XM_011535038.1:c.6312G>A	XP_011533340.1:p.Glu2104=
XM_011535039.1:c.6279G>A	XP_011533341.1:p.Glu2093=
XM_005266338.2:c.6288G>A	XP_005266395.1:p.Glu2096=
XM_011535039.2:c.6279G>A	XP_011533341.1:p.Glu2093=
XM_017020539.1:c.6252G>A	XP_016876028.1:p.Glu2084=
XM_024449337.1:c.6288G>A	XP_024305105.1:p.Glu2096=
NM_014363.6:c.6261G>A MANE Select	NP_055178.3:p.Glu2087=
NM_001278055.2:c.5820G>A	NP_001264984.1:p.Glu1940=