Canonical Allele Identifier: CA380124607

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282454T>A (hg19) ; chr11:g.35260907T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260907T>A , CM000673.2:g.35260907T>A	GRCh38
NC_000011.9:g.35282454T>A , CM000673.1:g.35282454T>A	GRCh37
NC_000011.8:g.35239030T>A	NCBI36
NG_008727.1:g.163652A>T
NG_008727.2:g.163652A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1712A>T MANE Select	ENSP00000278379.3:p.Lys571Ile
ENST00000395750.6:c.1700A>T	ENSP00000379099.2:p.Lys567Ile
ENST00000395753.6:c.1685A>T	ENSP00000379102.1:p.Lys562Ile
ENST00000479543.2:n.1264A>T
ENST00000642171.1:c.*94A>T	ENSP00000495538.1:n.*94A>T
ENST00000642448.1:n.1804A>T
ENST00000642769.1:c.978A>T
ENST00000643000.1:c.1685A>T	ENSP00000495164.1:p.Lys562Ile
ENST00000643134.1:c.1699A>T	ENSP00000495188.1:p.Asn567Tyr
ENST00000643522.1:c.1478A>T	ENSP00000496375.1:p.Lys493Ile
ENST00000644050.1:c.1685A>T	ENSP00000496123.1:p.Lys562Ile
ENST00000644299.1:c.1685A>T	ENSP00000494669.1:p.Lys562Ile
ENST00000644459.1:c.*204A>T	ENSP00000495861.1:n.*204A>T
ENST00000644779.1:c.1823A>T	ENSP00000494258.1:p.Lys608Ile
ENST00000644868.1:c.1774A>T	ENSP00000496760.1:n.1774A>T
ENST00000645194.1:c.1685A>T	ENSP00000496093.1:p.Lys562Ile
ENST00000645303.1:c.1727A>T	ENSP00000496667.1:p.Lys576Ile
ENST00000645542.1:n.418A>T
ENST00000645634.1:c.1685A>T	ENSP00000493945.1:p.Lys562Ile
ENST00000646080.1:c.1703A>T	ENSP00000494113.1:p.Lys568Ile
ENST00000647076.1:c.453A>T
ENST00000647104.1:c.1685A>T	ENSP00000494025.1:p.Lys562Ile
ENST00000278379.7:c.1712A>T	ENSP00000278379.3:p.Lys571Ile
ENST00000395750.5:c.1685A>T	ENSP00000379099.1:p.Lys562Ile
ENST00000395753.5:c.1685A>T	ENSP00000379102.1:p.Lys562Ile
ENST00000464522.2:c.219+4620A>T	ENSP00000435406.1:n.219+4620A>T
ENST00000479543.1:n.528A>T
NM_001195728.2:c.1685A>T	NP_001182657.1:p.Lys562Ile
NM_001252652.1:c.1685A>T	NP_001239581.1:p.Lys562Ile
NM_004171.3:c.1712A>T	NP_004162.2:p.Lys571Ile
XM_005253067.1:c.1703A>T	XP_005253124.1:p.Lys568Ile
XM_011520284.1:c.1760A>T	XP_011518586.1:p.Lys587Ile
XM_011520285.1:c.1700A>T	XP_011518587.1:p.Lys567Ile
XM_011520286.1:c.1625A>T	XP_011518588.1:p.Lys542Ile
XM_011520287.1:c.1526A>T	XP_011518589.1:p.Lys509Ile
XM_011520285.2:c.1700A>T	XP_011518587.1:p.Lys567Ile
XM_017018136.1:c.1727A>T	XP_016873625.1:p.Lys576Ile
XM_017018137.1:c.1685A>T	XP_016873626.1:p.Lys562Ile
XM_017018138.1:c.1685A>T	XP_016873627.1:p.Lys562Ile
XM_017018139.1:c.1478A>T	XP_016873628.1:p.Lys493Ile
NM_004171.4:c.1712A>T MANE Select	NP_004162.2:p.Lys571Ile
NM_001195728.3:c.1685A>T	NP_001182657.1:p.Lys562Ile
NM_001252652.2:c.1685A>T	NP_001239581.1:p.Lys562Ile