Canonical Allele Identifier: CA483162472

Gene: SACS

Linked Data

• ClinVar Variation Id: 1640091
• ClinVar RCV Id: RCV002138210
• dbSNP Id: rs1868956874
• COSMIC: COSM6138945 ; COSM6138946
• MyVariant Identifiers: chr13:g.23913317G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339178G>A , CM000675.2:g.23339178G>A	GRCh38
NC_000013.10:g.23913317G>A , CM000675.1:g.23913317G>A	GRCh37
NC_000013.9:g.22811317G>A	NCBI36
NG_012342.1:g.99525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14607C>T	ENSP00000508399.1:n.2185+14607C>T
ENST00000682944.1:c.4725C>T	ENSP00000507173.1:p.Ile1575=
ENST00000683210.1:c.2185+14607C>T	ENSP00000506739.1:n.2185+14607C>T
ENST00000683270.1:c.4689C>T	ENSP00000507624.1:p.Ile1563=
ENST00000683367.1:c.2177-9694C>T	ENSP00000507780.1:n.2177-9694C>T
ENST00000683489.1:c.2291+2407C>T	ENSP00000508403.1:n.2291+2407C>T
ENST00000683680.1:c.2318+2407C>T	ENSP00000507223.1:n.2318+2407C>T
ENST00000684163.1:c.2203+7633C>T	ENSP00000508262.1:n.2203+7633C>T
ENST00000684196.1:n.4543-9694C>T
ENST00000684325.1:c.2185+14607C>T	ENSP00000508121.1:n.2185+14607C>T
ENST00000684385.1:c.2220+7633C>T	ENSP00000507855.1:n.2220+7633C>T
ENST00000684497.1:c.2185+14607C>T	ENSP00000507057.1:n.2185+14607C>T
ENST00000382292.9:c.4698C>T MANE Select	ENSP00000371729.3:p.Ile1566=
ENST00000423156.2:c.2186-9694C>T	ENSP00000390925.2:n.2186-9694C>T
ENST00000455470.6:c.2431+2267C>T	ENSP00000406565.2:n.2431+2267C>T
ENST00000382292.7:c.4698C>T	ENSP00000371729.3:p.Ile1566=
ENST00000382298.7:c.4698C>T	ENSP00000371735.3:p.Ile1566=
ENST00000402364.1:c.2448C>T	ENSP00000385844.1:p.Ile816=
ENST00000423156.1:c.1058-9694C>T	ENSP00000390925.1:n.1058-9694C>T
ENST00000455470.5:c.2129+2267C>T
NM_001278055.1:c.4257C>T	NP_001264984.1:p.Ile1419=
NM_014363.5:c.4698C>T	NP_055178.3:p.Ile1566=
XM_005266338.1:c.4725C>T	XP_005266395.1:p.Ile1575=
XM_011535038.1:c.4749C>T	XP_011533340.1:p.Ile1583=
XM_011535039.1:c.4716C>T	XP_011533341.1:p.Ile1572=
XM_005266338.2:c.4725C>T	XP_005266395.1:p.Ile1575=
XM_011535039.2:c.4716C>T	XP_011533341.1:p.Ile1572=
XM_017020539.1:c.4689C>T	XP_016876028.1:p.Ile1563=
XM_024449337.1:c.4725C>T	XP_024305105.1:p.Ile1575=
NM_014363.6:c.4698C>T MANE Select	NP_055178.3:p.Ile1566=
NM_001278055.2:c.4257C>T	NP_001264984.1:p.Ile1419=