Canonical Allele Identifier: CA387540587

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23915803G>C (hg19) ; chr13:g.23341664G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341664G>C , CM000675.2:g.23341664G>C	GRCh38
NC_000013.10:g.23915803G>C , CM000675.1:g.23915803G>C	GRCh37
NC_000013.9:g.22813803G>C	NCBI36
NG_012342.1:g.97039C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12121C>G	ENSP00000508399.1:n.2185+12121C>G
ENST00000682944.1:c.2239C>G	ENSP00000507173.1:p.Leu747Val
ENST00000683210.1:c.2185+12121C>G	ENSP00000506739.1:n.2185+12121C>G
ENST00000683270.1:c.2203C>G	ENSP00000507624.1:p.Leu735Val
ENST00000683367.1:c.2176+12121C>G	ENSP00000507780.1:n.2176+12121C>G
ENST00000683489.1:c.2212C>G	ENSP00000508403.1:p.Leu738Val
ENST00000683680.1:c.2239C>G	ENSP00000507223.1:p.Leu747Val
ENST00000684163.1:c.2203+5147C>G	ENSP00000508262.1:n.2203+5147C>G
ENST00000684196.1:n.4542+12121C>G
ENST00000684325.1:c.2185+12121C>G	ENSP00000508121.1:n.2185+12121C>G
ENST00000684385.1:c.2220+5147C>G	ENSP00000507855.1:n.2220+5147C>G
ENST00000684497.1:c.2185+12121C>G	ENSP00000507057.1:n.2185+12121C>G
ENST00000382292.9:c.2212C>G MANE Select	ENSP00000371729.3:p.Leu738Val
ENST00000423156.2:c.2185+12121C>G	ENSP00000390925.2:n.2185+12121C>G
ENST00000455470.6:c.2212C>G	ENSP00000406565.2:p.Leu738Val
ENST00000382292.7:c.2212C>G	ENSP00000371729.3:p.Leu738Val
ENST00000382298.7:c.2212C>G	ENSP00000371735.3:p.Leu738Val
ENST00000402364.1:c.-39C>G	ENSP00000385844.1:n.-39C>G
ENST00000423156.1:c.1057+12121C>G	ENSP00000390925.1:n.1057+12121C>G
ENST00000455470.5:c.1910C>G
NM_001278055.1:c.1771C>G	NP_001264984.1:p.Leu591Val
NM_014363.5:c.2212C>G	NP_055178.3:p.Leu738Val
XM_005266338.1:c.2239C>G	XP_005266395.1:p.Leu747Val
XM_011535038.1:c.2263C>G	XP_011533340.1:p.Leu755Val
XM_011535039.1:c.2230C>G	XP_011533341.1:p.Leu744Val
XM_005266338.2:c.2239C>G	XP_005266395.1:p.Leu747Val
XM_011535039.2:c.2230C>G	XP_011533341.1:p.Leu744Val
XM_017020539.1:c.2203C>G	XP_016876028.1:p.Leu735Val
XM_024449337.1:c.2239C>G	XP_024305105.1:p.Leu747Val
NM_014363.6:c.2212C>G MANE Select	NP_055178.3:p.Leu738Val
NM_001278055.2:c.1771C>G	NP_001264984.1:p.Leu591Val