Canonical Allele Identifier: CA387521114

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23911378T>G (hg19) ; chr13:g.23337239T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337239T>G , CM000675.2:g.23337239T>G	GRCh38
NC_000013.10:g.23911378T>G , CM000675.1:g.23911378T>G	GRCh37
NC_000013.9:g.22809378T>G	NCBI36
NG_012342.1:g.101464A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+16546A>C	ENSP00000508399.1:n.2185+16546A>C
ENST00000682944.1:c.6664A>C	ENSP00000507173.1:p.Ile2222Leu
ENST00000683210.1:c.2185+16546A>C	ENSP00000506739.1:n.2185+16546A>C
ENST00000683270.1:c.6445+183A>C	ENSP00000507624.1:n.6445+183A>C
ENST00000683367.1:c.2177-7755A>C	ENSP00000507780.1:n.2177-7755A>C
ENST00000683489.1:c.2291+4346A>C	ENSP00000508403.1:n.2291+4346A>C
ENST00000683680.1:c.2318+4346A>C	ENSP00000507223.1:n.2318+4346A>C
ENST00000684163.1:c.2204-7755A>C	ENSP00000508262.1:n.2204-7755A>C
ENST00000684196.1:n.4543-7755A>C
ENST00000684325.1:c.2186-15565A>C	ENSP00000508121.1:n.2186-15565A>C
ENST00000684385.1:c.2221-7755A>C	ENSP00000507855.1:n.2221-7755A>C
ENST00000684497.1:c.2186-14595A>C	ENSP00000507057.1:n.2186-14595A>C
ENST00000382292.9:c.6637A>C MANE Select	ENSP00000371729.3:p.Ile2213Leu
ENST00000423156.2:c.2186-7755A>C	ENSP00000390925.2:n.2186-7755A>C
ENST00000455470.6:c.2431+4206A>C	ENSP00000406565.2:n.2431+4206A>C
ENST00000382292.7:c.6637A>C	ENSP00000371729.3:p.Ile2213Leu
ENST00000382298.7:c.6637A>C	ENSP00000371735.3:p.Ile2213Leu
ENST00000402364.1:c.4387A>C	ENSP00000385844.1:p.Ile1463Leu
ENST00000423156.1:c.1058-7755A>C	ENSP00000390925.1:n.1058-7755A>C
ENST00000455470.5:c.2129+4206A>C
NM_001278055.1:c.6196A>C	NP_001264984.1:p.Ile2066Leu
NM_014363.5:c.6637A>C	NP_055178.3:p.Ile2213Leu
XM_005266338.1:c.6664A>C	XP_005266395.1:p.Ile2222Leu
XM_011535038.1:c.6688A>C	XP_011533340.1:p.Ile2230Leu
XM_011535039.1:c.6655A>C	XP_011533341.1:p.Ile2219Leu
XM_005266338.2:c.6664A>C	XP_005266395.1:p.Ile2222Leu
XM_011535039.2:c.6655A>C	XP_011533341.1:p.Ile2219Leu
XM_017020539.1:c.6628A>C	XP_016876028.1:p.Ile2210Leu
XM_024449337.1:c.6664A>C	XP_024305105.1:p.Ile2222Leu
NM_014363.6:c.6637A>C MANE Select	NP_055178.3:p.Ile2213Leu
NM_001278055.2:c.6196A>C	NP_001264984.1:p.Ile2066Leu