Canonical Allele Identifier: CA380124749

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282485C>A (hg19) ; chr11:g.35260938C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260938C>A , CM000673.2:g.35260938C>A	GRCh38
NC_000011.9:g.35282485C>A , CM000673.1:g.35282485C>A	GRCh37
NC_000011.8:g.35239061C>A	NCBI36
NG_008727.1:g.163621G>T
NG_008727.2:g.163621G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1681G>T MANE Select	ENSP00000278379.3:p.Ala561Ser
ENST00000395750.6:c.1669G>T	ENSP00000379099.2:p.Ala557Ser
ENST00000395753.6:c.1654G>T	ENSP00000379102.1:p.Ala552Ser
ENST00000479543.2:n.1233G>T
ENST00000642171.1:c.*63G>T	ENSP00000495538.1:n.*63G>T
ENST00000642448.1:n.1773G>T
ENST00000642769.1:c.947G>T
ENST00000643000.1:c.1654G>T	ENSP00000495164.1:p.Ala552Ser
ENST00000643134.1:c.1668G>T	ENSP00000495188.1:p.Gln556His
ENST00000643522.1:c.1447G>T	ENSP00000496375.1:p.Ala483Ser
ENST00000644050.1:c.1654G>T	ENSP00000496123.1:p.Ala552Ser
ENST00000644299.1:c.1654G>T	ENSP00000494669.1:p.Ala552Ser
ENST00000644459.1:c.*173G>T	ENSP00000495861.1:n.*173G>T
ENST00000644779.1:c.1792G>T	ENSP00000494258.1:p.Ala598Ser
ENST00000644868.1:c.1743G>T	ENSP00000496760.1:n.1743G>T
ENST00000645194.1:c.1654G>T	ENSP00000496093.1:p.Ala552Ser
ENST00000645303.1:c.1696G>T	ENSP00000496667.1:p.Ala566Ser
ENST00000645542.1:n.387G>T
ENST00000645634.1:c.1654G>T	ENSP00000493945.1:p.Ala552Ser
ENST00000646080.1:c.1672G>T	ENSP00000494113.1:p.Ala558Ser
ENST00000647076.1:c.422G>T
ENST00000647104.1:c.1654G>T	ENSP00000494025.1:p.Ala552Ser
ENST00000278379.7:c.1681G>T	ENSP00000278379.3:p.Ala561Ser
ENST00000395750.5:c.1654G>T	ENSP00000379099.1:p.Ala552Ser
ENST00000395753.5:c.1654G>T	ENSP00000379102.1:p.Ala552Ser
ENST00000464522.2:c.219+4589G>T	ENSP00000435406.1:n.219+4589G>T
ENST00000479543.1:n.497G>T
NM_001195728.2:c.1654G>T	NP_001182657.1:p.Ala552Ser
NM_001252652.1:c.1654G>T	NP_001239581.1:p.Ala552Ser
NM_004171.3:c.1681G>T	NP_004162.2:p.Ala561Ser
XM_005253067.1:c.1672G>T	XP_005253124.1:p.Ala558Ser
XM_011520284.1:c.1729G>T	XP_011518586.1:p.Ala577Ser
XM_011520285.1:c.1669G>T	XP_011518587.1:p.Ala557Ser
XM_011520286.1:c.1594G>T	XP_011518588.1:p.Ala532Ser
XM_011520287.1:c.1495G>T	XP_011518589.1:p.Ala499Ser
XM_011520285.2:c.1669G>T	XP_011518587.1:p.Ala557Ser
XM_017018136.1:c.1696G>T	XP_016873625.1:p.Ala566Ser
XM_017018137.1:c.1654G>T	XP_016873626.1:p.Ala552Ser
XM_017018138.1:c.1654G>T	XP_016873627.1:p.Ala552Ser
XM_017018139.1:c.1447G>T	XP_016873628.1:p.Ala483Ser
NM_004171.4:c.1681G>T MANE Select	NP_004162.2:p.Ala561Ser
NM_001195728.3:c.1654G>T	NP_001182657.1:p.Ala552Ser
NM_001252652.2:c.1654G>T	NP_001239581.1:p.Ala552Ser