Canonical Allele Identifier: CA380124687

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282469T>A (hg19) ; chr11:g.35260922T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260922T>A , CM000673.2:g.35260922T>A	GRCh38
NC_000011.9:g.35282469T>A , CM000673.1:g.35282469T>A	GRCh37
NC_000011.8:g.35239045T>A	NCBI36
NG_008727.1:g.163637A>T
NG_008727.2:g.163637A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1697A>T MANE Select	ENSP00000278379.3:p.Glu566Val
ENST00000395750.6:c.1685A>T	ENSP00000379099.2:p.Glu562Val
ENST00000395753.6:c.1670A>T	ENSP00000379102.1:p.Glu557Val
ENST00000479543.2:n.1249A>T
ENST00000642171.1:c.*79A>T	ENSP00000495538.1:n.*79A>T
ENST00000642448.1:n.1789A>T
ENST00000642769.1:c.963A>T
ENST00000643000.1:c.1670A>T	ENSP00000495164.1:p.Glu557Val
ENST00000643134.1:c.1684A>T	ENSP00000495188.1:p.Arg562Trp
ENST00000643522.1:c.1463A>T	ENSP00000496375.1:p.Glu488Val
ENST00000644050.1:c.1670A>T	ENSP00000496123.1:p.Glu557Val
ENST00000644299.1:c.1670A>T	ENSP00000494669.1:p.Glu557Val
ENST00000644459.1:c.*189A>T	ENSP00000495861.1:n.*189A>T
ENST00000644779.1:c.1808A>T	ENSP00000494258.1:p.Glu603Val
ENST00000644868.1:c.1759A>T	ENSP00000496760.1:n.1759A>T
ENST00000645194.1:c.1670A>T	ENSP00000496093.1:p.Glu557Val
ENST00000645303.1:c.1712A>T	ENSP00000496667.1:p.Glu571Val
ENST00000645542.1:n.403A>T
ENST00000645634.1:c.1670A>T	ENSP00000493945.1:p.Glu557Val
ENST00000646080.1:c.1688A>T	ENSP00000494113.1:p.Glu563Val
ENST00000647076.1:c.438A>T
ENST00000647104.1:c.1670A>T	ENSP00000494025.1:p.Glu557Val
ENST00000278379.7:c.1697A>T	ENSP00000278379.3:p.Glu566Val
ENST00000395750.5:c.1670A>T	ENSP00000379099.1:p.Glu557Val
ENST00000395753.5:c.1670A>T	ENSP00000379102.1:p.Glu557Val
ENST00000464522.2:c.219+4605A>T	ENSP00000435406.1:n.219+4605A>T
ENST00000479543.1:n.513A>T
NM_001195728.2:c.1670A>T	NP_001182657.1:p.Glu557Val
NM_001252652.1:c.1670A>T	NP_001239581.1:p.Glu557Val
NM_004171.3:c.1697A>T	NP_004162.2:p.Glu566Val
XM_005253067.1:c.1688A>T	XP_005253124.1:p.Glu563Val
XM_011520284.1:c.1745A>T	XP_011518586.1:p.Glu582Val
XM_011520285.1:c.1685A>T	XP_011518587.1:p.Glu562Val
XM_011520286.1:c.1610A>T	XP_011518588.1:p.Glu537Val
XM_011520287.1:c.1511A>T	XP_011518589.1:p.Glu504Val
XM_011520285.2:c.1685A>T	XP_011518587.1:p.Glu562Val
XM_017018136.1:c.1712A>T	XP_016873625.1:p.Glu571Val
XM_017018137.1:c.1670A>T	XP_016873626.1:p.Glu557Val
XM_017018138.1:c.1670A>T	XP_016873627.1:p.Glu557Val
XM_017018139.1:c.1463A>T	XP_016873628.1:p.Glu488Val
NM_004171.4:c.1697A>T MANE Select	NP_004162.2:p.Glu566Val
NM_001195728.3:c.1670A>T	NP_001182657.1:p.Glu557Val
NM_001252652.2:c.1670A>T	NP_001239581.1:p.Glu557Val