Canonical Allele Identifier: CA483161895

Gene: SACS

Linked Data

• COSMIC: COSM946044 ; COSM1586938
• MyVariant Identifiers: chr13:g.23911922A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337783A>C , CM000675.2:g.23337783A>C	GRCh38
NC_000013.10:g.23911922A>C , CM000675.1:g.23911922A>C	GRCh37
NC_000013.9:g.22809922A>C	NCBI36
NG_012342.1:g.100920T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16002T>G	ENSP00000508399.1:n.2185+16002T>G
ENST00000682944.1:c.6120T>G	ENSP00000507173.1:p.Ser2040=
ENST00000683210.1:c.2185+16002T>G	ENSP00000506739.1:n.2185+16002T>G
ENST00000683270.1:c.6084T>G	ENSP00000507624.1:p.Ser2028=
ENST00000683367.1:c.2177-8299T>G	ENSP00000507780.1:n.2177-8299T>G
ENST00000683489.1:c.2291+3802T>G	ENSP00000508403.1:n.2291+3802T>G
ENST00000683680.1:c.2318+3802T>G	ENSP00000507223.1:n.2318+3802T>G
ENST00000684163.1:c.2204-8299T>G	ENSP00000508262.1:n.2204-8299T>G
ENST00000684196.1:n.4543-8299T>G
ENST00000684325.1:c.2185+16002T>G	ENSP00000508121.1:n.2185+16002T>G
ENST00000684385.1:c.2221-8299T>G	ENSP00000507855.1:n.2221-8299T>G
ENST00000684497.1:c.2186-15139T>G	ENSP00000507057.1:n.2186-15139T>G
ENST00000382292.9:c.6093T>G MANE Select	ENSP00000371729.3:p.Ser2031=
ENST00000423156.2:c.2186-8299T>G	ENSP00000390925.2:n.2186-8299T>G
ENST00000455470.6:c.2431+3662T>G	ENSP00000406565.2:n.2431+3662T>G
ENST00000382292.7:c.6093T>G	ENSP00000371729.3:p.Ser2031=
ENST00000382298.7:c.6093T>G	ENSP00000371735.3:p.Ser2031=
ENST00000402364.1:c.3843T>G	ENSP00000385844.1:p.Ser1281=
ENST00000423156.1:c.1058-8299T>G	ENSP00000390925.1:n.1058-8299T>G
ENST00000455470.5:c.2129+3662T>G
NM_001278055.1:c.5652T>G	NP_001264984.1:p.Ser1884=
NM_014363.5:c.6093T>G	NP_055178.3:p.Ser2031=
XM_005266338.1:c.6120T>G	XP_005266395.1:p.Ser2040=
XM_011535038.1:c.6144T>G	XP_011533340.1:p.Ser2048=
XM_011535039.1:c.6111T>G	XP_011533341.1:p.Ser2037=
XM_005266338.2:c.6120T>G	XP_005266395.1:p.Ser2040=
XM_011535039.2:c.6111T>G	XP_011533341.1:p.Ser2037=
XM_017020539.1:c.6084T>G	XP_016876028.1:p.Ser2028=
XM_024449337.1:c.6120T>G	XP_024305105.1:p.Ser2040=
NM_014363.6:c.6093T>G MANE Select	NP_055178.3:p.Ser2031=
NM_001278055.2:c.5652T>G	NP_001264984.1:p.Ser1884=