Canonical Allele Identifier: CA387551895

Gene: SACS

Linked Data

• COSMIC: COSM4046594 ; COSM4046595
• MyVariant Identifiers: chr13:g.23932488A>G (hg19) ; chr13:g.23358349A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358349A>G , CM000675.2:g.23358349A>G	GRCh38
NC_000013.10:g.23932488A>G , CM000675.1:g.23932488A>G	GRCh37
NC_000013.9:g.22830488A>G	NCBI36
NG_012342.1:g.80354T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.590T>C	ENSP00000508399.1:p.Val197Ala
ENST00000682944.1:c.590T>C	ENSP00000507173.1:p.Val197Ala
ENST00000683154.1:n.728T>C
ENST00000683210.1:c.590T>C	ENSP00000506739.1:p.Val197Ala
ENST00000683270.1:c.581T>C	ENSP00000507624.1:p.Val194Ala
ENST00000683367.1:c.581T>C	ENSP00000507780.1:p.Val194Ala
ENST00000683489.1:c.590T>C	ENSP00000508403.1:p.Val197Ala
ENST00000683680.1:c.590T>C	ENSP00000507223.1:p.Val197Ala
ENST00000684163.1:c.581T>C	ENSP00000508262.1:p.Val194Ala
ENST00000684196.1:n.2947T>C
ENST00000684325.1:c.590T>C	ENSP00000508121.1:p.Val197Ala
ENST00000684385.1:c.590T>C	ENSP00000507855.1:p.Val197Ala
ENST00000684497.1:c.590T>C	ENSP00000507057.1:p.Val197Ala
ENST00000382292.9:c.590T>C MANE Select	ENSP00000371729.3:p.Val197Ala
ENST00000423156.2:c.590T>C	ENSP00000390925.2:p.Val197Ala
ENST00000455470.6:c.590T>C	ENSP00000406565.2:p.Val197Ala
ENST00000382292.7:c.590T>C	ENSP00000371729.3:p.Val197Ala
ENST00000382298.7:c.590T>C	ENSP00000371735.3:p.Val197Ala
ENST00000402364.1:c.-1661T>C	ENSP00000385844.1:n.-1661T>C
ENST00000455470.5:c.288T>C
NM_001278055.1:c.149T>C	NP_001264984.1:p.Val50Ala
NM_014363.5:c.590T>C	NP_055178.3:p.Val197Ala
XM_005266338.1:c.590T>C	XP_005266395.1:p.Val197Ala
XM_011535038.1:c.614T>C	XP_011533340.1:p.Val205Ala
XM_011535039.1:c.581T>C	XP_011533341.1:p.Val194Ala
XM_005266338.2:c.590T>C	XP_005266395.1:p.Val197Ala
XM_011535039.2:c.581T>C	XP_011533341.1:p.Val194Ala
XM_017020539.1:c.581T>C	XP_016876028.1:p.Val194Ala
XM_024449337.1:c.590T>C	XP_024305105.1:p.Val197Ala
NM_014363.6:c.590T>C MANE Select	NP_055178.3:p.Val197Ala
NM_001278055.2:c.149T>C	NP_001264984.1:p.Val50Ala