Canonical Allele Identifier: CA387521927

Gene: SACS

Linked Data

• dbSNP Id: rs2137609884
• MyVariant Identifiers: chr13:g.23911597G>T (hg19) ; chr13:g.23337458G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337458G>T , CM000675.2:g.23337458G>T	GRCh38
NC_000013.10:g.23911597G>T , CM000675.1:g.23911597G>T	GRCh37
NC_000013.9:g.22809597G>T	NCBI36
NG_012342.1:g.101245C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16327C>A	ENSP00000508399.1:n.2185+16327C>A
ENST00000682944.1:c.6445C>A	ENSP00000507173.1:p.Leu2149Ile
ENST00000683210.1:c.2185+16327C>A	ENSP00000506739.1:n.2185+16327C>A
ENST00000683270.1:c.6409C>A	ENSP00000507624.1:p.Leu2137Ile
ENST00000683367.1:c.2177-7974C>A	ENSP00000507780.1:n.2177-7974C>A
ENST00000683489.1:c.2291+4127C>A	ENSP00000508403.1:n.2291+4127C>A
ENST00000683680.1:c.2318+4127C>A	ENSP00000507223.1:n.2318+4127C>A
ENST00000684163.1:c.2204-7974C>A	ENSP00000508262.1:n.2204-7974C>A
ENST00000684196.1:n.4543-7974C>A
ENST00000684325.1:c.2186-15784C>A	ENSP00000508121.1:n.2186-15784C>A
ENST00000684385.1:c.2221-7974C>A	ENSP00000507855.1:n.2221-7974C>A
ENST00000684497.1:c.2186-14814C>A	ENSP00000507057.1:n.2186-14814C>A
ENST00000382292.9:c.6418C>A MANE Select	ENSP00000371729.3:p.Leu2140Ile
ENST00000423156.2:c.2186-7974C>A	ENSP00000390925.2:n.2186-7974C>A
ENST00000455470.6:c.2431+3987C>A	ENSP00000406565.2:n.2431+3987C>A
ENST00000382292.7:c.6418C>A	ENSP00000371729.3:p.Leu2140Ile
ENST00000382298.7:c.6418C>A	ENSP00000371735.3:p.Leu2140Ile
ENST00000402364.1:c.4168C>A	ENSP00000385844.1:p.Leu1390Ile
ENST00000423156.1:c.1058-7974C>A	ENSP00000390925.1:n.1058-7974C>A
ENST00000455470.5:c.2129+3987C>A
NM_001278055.1:c.5977C>A	NP_001264984.1:p.Leu1993Ile
NM_014363.5:c.6418C>A	NP_055178.3:p.Leu2140Ile
XM_005266338.1:c.6445C>A	XP_005266395.1:p.Leu2149Ile
XM_011535038.1:c.6469C>A	XP_011533340.1:p.Leu2157Ile
XM_011535039.1:c.6436C>A	XP_011533341.1:p.Leu2146Ile
XM_005266338.2:c.6445C>A	XP_005266395.1:p.Leu2149Ile
XM_011535039.2:c.6436C>A	XP_011533341.1:p.Leu2146Ile
XM_017020539.1:c.6409C>A	XP_016876028.1:p.Leu2137Ile
XM_024449337.1:c.6445C>A	XP_024305105.1:p.Leu2149Ile
NM_014363.6:c.6418C>A MANE Select	NP_055178.3:p.Leu2140Ile
NM_001278055.2:c.5977C>A	NP_001264984.1:p.Leu1993Ile