Canonical Allele Identifier: CA387531974

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23913806A>C (hg19) ; chr13:g.23339667A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339667A>C , CM000675.2:g.23339667A>C	GRCh38
NC_000013.10:g.23913806A>C , CM000675.1:g.23913806A>C	GRCh37
NC_000013.9:g.22811806A>C	NCBI36
NG_012342.1:g.99036T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14118T>G	ENSP00000508399.1:n.2185+14118T>G
ENST00000682944.1:c.4236T>G	ENSP00000507173.1:p.Ile1412Met
ENST00000683210.1:c.2185+14118T>G	ENSP00000506739.1:n.2185+14118T>G
ENST00000683270.1:c.4200T>G	ENSP00000507624.1:p.Ile1400Met
ENST00000683367.1:c.2177-10183T>G	ENSP00000507780.1:n.2177-10183T>G
ENST00000683489.1:c.2291+1918T>G	ENSP00000508403.1:n.2291+1918T>G
ENST00000683680.1:c.2318+1918T>G	ENSP00000507223.1:n.2318+1918T>G
ENST00000684163.1:c.2203+7144T>G	ENSP00000508262.1:n.2203+7144T>G
ENST00000684196.1:n.4543-10183T>G
ENST00000684325.1:c.2185+14118T>G	ENSP00000508121.1:n.2185+14118T>G
ENST00000684385.1:c.2220+7144T>G	ENSP00000507855.1:n.2220+7144T>G
ENST00000684497.1:c.2185+14118T>G	ENSP00000507057.1:n.2185+14118T>G
ENST00000382292.9:c.4209T>G MANE Select	ENSP00000371729.3:p.Ile1403Met
ENST00000423156.2:c.2186-10183T>G	ENSP00000390925.2:n.2186-10183T>G
ENST00000455470.6:c.2431+1778T>G	ENSP00000406565.2:n.2431+1778T>G
ENST00000382292.7:c.4209T>G	ENSP00000371729.3:p.Ile1403Met
ENST00000382298.7:c.4209T>G	ENSP00000371735.3:p.Ile1403Met
ENST00000402364.1:c.1959T>G	ENSP00000385844.1:p.Ile653Met
ENST00000423156.1:c.1058-10183T>G	ENSP00000390925.1:n.1058-10183T>G
ENST00000455470.5:c.2129+1778T>G
NM_001278055.1:c.3768T>G	NP_001264984.1:p.Ile1256Met
NM_014363.5:c.4209T>G	NP_055178.3:p.Ile1403Met
XM_005266338.1:c.4236T>G	XP_005266395.1:p.Ile1412Met
XM_011535038.1:c.4260T>G	XP_011533340.1:p.Ile1420Met
XM_011535039.1:c.4227T>G	XP_011533341.1:p.Ile1409Met
XM_005266338.2:c.4236T>G	XP_005266395.1:p.Ile1412Met
XM_011535039.2:c.4227T>G	XP_011533341.1:p.Ile1409Met
XM_017020539.1:c.4200T>G	XP_016876028.1:p.Ile1400Met
XM_024449337.1:c.4236T>G	XP_024305105.1:p.Ile1412Met
NM_014363.6:c.4209T>G MANE Select	NP_055178.3:p.Ile1403Met
NM_001278055.2:c.3768T>G	NP_001264984.1:p.Ile1256Met