Canonical Allele Identifier: CA387534624

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23914457C>A (hg19) ; chr13:g.23340318C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340318C>A , CM000675.2:g.23340318C>A	GRCh38
NC_000013.10:g.23914457C>A , CM000675.1:g.23914457C>A	GRCh37
NC_000013.9:g.22812457C>A	NCBI36
NG_012342.1:g.98385G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13467G>T	ENSP00000508399.1:n.2185+13467G>T
ENST00000682944.1:c.3585G>T	ENSP00000507173.1:p.Met1195Ile
ENST00000683210.1:c.2185+13467G>T	ENSP00000506739.1:n.2185+13467G>T
ENST00000683270.1:c.3549G>T	ENSP00000507624.1:p.Met1183Ile
ENST00000683367.1:c.2177-10834G>T	ENSP00000507780.1:n.2177-10834G>T
ENST00000683489.1:c.2291+1267G>T	ENSP00000508403.1:n.2291+1267G>T
ENST00000683680.1:c.2318+1267G>T	ENSP00000507223.1:n.2318+1267G>T
ENST00000684163.1:c.2203+6493G>T	ENSP00000508262.1:n.2203+6493G>T
ENST00000684196.1:n.4543-10834G>T
ENST00000684325.1:c.2185+13467G>T	ENSP00000508121.1:n.2185+13467G>T
ENST00000684385.1:c.2220+6493G>T	ENSP00000507855.1:n.2220+6493G>T
ENST00000684497.1:c.2185+13467G>T	ENSP00000507057.1:n.2185+13467G>T
ENST00000382292.9:c.3558G>T MANE Select	ENSP00000371729.3:p.Met1186Ile
ENST00000423156.2:c.2186-10834G>T	ENSP00000390925.2:n.2186-10834G>T
ENST00000455470.6:c.2431+1127G>T	ENSP00000406565.2:n.2431+1127G>T
ENST00000382292.7:c.3558G>T	ENSP00000371729.3:p.Met1186Ile
ENST00000382298.7:c.3558G>T	ENSP00000371735.3:p.Met1186Ile
ENST00000402364.1:c.1308G>T	ENSP00000385844.1:p.Met436Ile
ENST00000423156.1:c.1058-10834G>T	ENSP00000390925.1:n.1058-10834G>T
ENST00000455470.5:c.2129+1127G>T
NM_001278055.1:c.3117G>T	NP_001264984.1:p.Met1039Ile
NM_014363.5:c.3558G>T	NP_055178.3:p.Met1186Ile
XM_005266338.1:c.3585G>T	XP_005266395.1:p.Met1195Ile
XM_011535038.1:c.3609G>T	XP_011533340.1:p.Met1203Ile
XM_011535039.1:c.3576G>T	XP_011533341.1:p.Met1192Ile
XM_005266338.2:c.3585G>T	XP_005266395.1:p.Met1195Ile
XM_011535039.2:c.3576G>T	XP_011533341.1:p.Met1192Ile
XM_017020539.1:c.3549G>T	XP_016876028.1:p.Met1183Ile
XM_024449337.1:c.3585G>T	XP_024305105.1:p.Met1195Ile
NM_014363.6:c.3558G>T MANE Select	NP_055178.3:p.Met1186Ile
NM_001278055.2:c.3117G>T	NP_001264984.1:p.Met1039Ile