Canonical Allele Identifier: CA380124672

Gene: SLC1A2

Linked Data

• ClinVar Variation Id: 2129360
• ClinVar RCV Id: RCV003040503
• MyVariant Identifiers: chr11:g.35282467C>T (hg19) ; chr11:g.35260920C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260920C>T , CM000673.2:g.35260920C>T	GRCh38
NC_000011.9:g.35282467C>T , CM000673.1:g.35282467C>T	GRCh37
NC_000011.8:g.35239043C>T	NCBI36
NG_008727.1:g.163639G>A
NG_008727.2:g.163639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1699G>A MANE Select	ENSP00000278379.3:p.Glu567Lys
ENST00000395750.6:c.1687G>A	ENSP00000379099.2:p.Glu563Lys
ENST00000395753.6:c.1672G>A	ENSP00000379102.1:p.Glu558Lys
ENST00000479543.2:n.1251G>A
ENST00000642171.1:c.*81G>A	ENSP00000495538.1:n.*81G>A
ENST00000642448.1:n.1791G>A
ENST00000642769.1:c.965G>A
ENST00000643000.1:c.1672G>A	ENSP00000495164.1:p.Glu558Lys
ENST00000643134.1:c.1686G>A	ENSP00000495188.1:p.Arg562=
ENST00000643522.1:c.1465G>A	ENSP00000496375.1:p.Glu489Lys
ENST00000644050.1:c.1672G>A	ENSP00000496123.1:p.Glu558Lys
ENST00000644299.1:c.1672G>A	ENSP00000494669.1:p.Glu558Lys
ENST00000644459.1:c.*191G>A	ENSP00000495861.1:n.*191G>A
ENST00000644779.1:c.1810G>A	ENSP00000494258.1:p.Glu604Lys
ENST00000644868.1:c.1761G>A	ENSP00000496760.1:n.1761G>A
ENST00000645194.1:c.1672G>A	ENSP00000496093.1:p.Glu558Lys
ENST00000645303.1:c.1714G>A	ENSP00000496667.1:p.Glu572Lys
ENST00000645542.1:n.405G>A
ENST00000645634.1:c.1672G>A	ENSP00000493945.1:p.Glu558Lys
ENST00000646080.1:c.1690G>A	ENSP00000494113.1:p.Glu564Lys
ENST00000647076.1:c.440G>A
ENST00000647104.1:c.1672G>A	ENSP00000494025.1:p.Glu558Lys
ENST00000278379.7:c.1699G>A	ENSP00000278379.3:p.Glu567Lys
ENST00000395750.5:c.1672G>A	ENSP00000379099.1:p.Glu558Lys
ENST00000395753.5:c.1672G>A	ENSP00000379102.1:p.Glu558Lys
ENST00000464522.2:c.219+4607G>A	ENSP00000435406.1:n.219+4607G>A
ENST00000479543.1:n.515G>A
NM_001195728.2:c.1672G>A	NP_001182657.1:p.Glu558Lys
NM_001252652.1:c.1672G>A	NP_001239581.1:p.Glu558Lys
NM_004171.3:c.1699G>A	NP_004162.2:p.Glu567Lys
XM_005253067.1:c.1690G>A	XP_005253124.1:p.Glu564Lys
XM_011520284.1:c.1747G>A	XP_011518586.1:p.Glu583Lys
XM_011520285.1:c.1687G>A	XP_011518587.1:p.Glu563Lys
XM_011520286.1:c.1612G>A	XP_011518588.1:p.Glu538Lys
XM_011520287.1:c.1513G>A	XP_011518589.1:p.Glu505Lys
XM_011520285.2:c.1687G>A	XP_011518587.1:p.Glu563Lys
XM_017018136.1:c.1714G>A	XP_016873625.1:p.Glu572Lys
XM_017018137.1:c.1672G>A	XP_016873626.1:p.Glu558Lys
XM_017018138.1:c.1672G>A	XP_016873627.1:p.Glu558Lys
XM_017018139.1:c.1465G>A	XP_016873628.1:p.Glu489Lys
NM_004171.4:c.1699G>A MANE Select	NP_004162.2:p.Glu567Lys
NM_001195728.3:c.1672G>A	NP_001182657.1:p.Glu558Lys
NM_001252652.2:c.1672G>A	NP_001239581.1:p.Glu558Lys