Canonical Allele Identifier: CA5947270

Gene: SLC1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35306201C>T , CM000673.2:g.35306201C>T	GRCh38
NC_000011.9:g.35327748C>T , CM000673.1:g.35327748C>T	GRCh37
NC_000011.8:g.35284324C>T	NCBI36
NG_008727.1:g.118358G>A
NG_008727.2:g.118358G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.603G>A MANE Select	ENSP00000278379.3:p.Pro201=
ENST00000395750.6:c.591G>A	ENSP00000379099.2:p.Pro197=
ENST00000395753.6:c.576G>A	ENSP00000379102.1:p.Pro192=
ENST00000449068.2:c.603G>A	ENSP00000406133.2:p.Pro201=
ENST00000479543.2:n.155G>A
ENST00000531628.2:c.603G>A	ENSP00000436029.2:p.Pro201=
ENST00000606205.6:c.603G>A	ENSP00000476124.2:p.Pro201=
ENST00000642171.1:c.603G>A	ENSP00000495538.1:p.Pro201=
ENST00000642183.1:n.865G>A
ENST00000642196.1:n.304G>A
ENST00000642216.1:n.151G>A
ENST00000642224.1:n.892G>A
ENST00000642448.1:n.695G>A
ENST00000642578.1:c.576G>A	ENSP00000494076.1:p.Pro192=
ENST00000643000.1:c.576G>A	ENSP00000495164.1:p.Pro192=
ENST00000643134.1:c.603G>A	ENSP00000495188.1:p.Pro201=
ENST00000643154.1:n.1183G>A
ENST00000643305.1:c.603G>A	ENSP00000494828.1:p.Pro201=
ENST00000643454.1:c.594G>A	ENSP00000495126.1:p.Pro198=
ENST00000643522.1:c.603G>A	ENSP00000496375.1:p.Pro201=
ENST00000644050.1:c.576G>A	ENSP00000496123.1:p.Pro192=
ENST00000644299.1:c.576G>A	ENSP00000494669.1:p.Pro192=
ENST00000644351.1:c.603G>A	ENSP00000496587.1:p.Pro201=
ENST00000644459.1:c.603G>A	ENSP00000495861.1:p.Pro201=
ENST00000644779.1:c.714G>A	ENSP00000494258.1:p.Pro238=
ENST00000644868.1:c.594G>A	ENSP00000496760.1:p.Pro198=
ENST00000645194.1:c.576G>A	ENSP00000496093.1:p.Pro192=
ENST00000645303.1:c.618G>A	ENSP00000496667.1:p.Pro206=
ENST00000645634.1:c.576G>A	ENSP00000493945.1:p.Pro192=
ENST00000645892.1:n.708G>A
ENST00000646080.1:c.594G>A	ENSP00000494113.1:p.Pro198=
ENST00000646099.1:c.591G>A	ENSP00000495799.1:p.Pro197=
ENST00000646112.1:n.685G>A
ENST00000646167.1:c.453G>A	ENSP00000495246.1:p.Pro151=
ENST00000646585.1:n.758G>A
ENST00000646833.1:n.156G>A
ENST00000646847.1:c.603G>A	ENSP00000493924.1:p.Pro201=
ENST00000647104.1:c.576G>A	ENSP00000494025.1:p.Pro192=
ENST00000647372.1:c.576G>A	ENSP00000495277.1:p.Pro192=
ENST00000278379.7:c.603G>A	ENSP00000278379.3:p.Pro201=
ENST00000395750.5:c.576G>A	ENSP00000379099.1:p.Pro192=
ENST00000395753.5:c.576G>A	ENSP00000379102.1:p.Pro192=
ENST00000449068.1:c.591G>A	ENSP00000406133.1:p.Pro197=
ENST00000606205.5:c.603G>A	ENSP00000476124.1:p.Pro201=
NM_001195728.2:c.576G>A	NP_001182657.1:p.Pro192=
NM_001252652.1:c.576G>A	NP_001239581.1:p.Pro192=
NM_004171.3:c.603G>A	NP_004162.2:p.Pro201=
XM_005253067.1:c.594G>A	XP_005253124.1:p.Pro198=
XM_011520284.1:c.651G>A	XP_011518586.1:p.Pro217=
XM_011520285.1:c.591G>A	XP_011518587.1:p.Pro197=
XM_011520286.1:c.651G>A	XP_011518588.1:p.Pro217=
XM_011520287.1:c.651G>A	XP_011518589.1:p.Pro217=
XM_011520285.2:c.591G>A	XP_011518587.1:p.Pro197=
XM_017018136.1:c.618G>A	XP_016873625.1:p.Pro206=
XM_017018137.1:c.576G>A	XP_016873626.1:p.Pro192=
XM_017018138.1:c.576G>A	XP_016873627.1:p.Pro192=
XM_017018139.1:c.603G>A	XP_016873628.1:p.Pro201=
NM_004171.4:c.603G>A MANE Select	NP_004162.2:p.Pro201=
NM_001195728.3:c.576G>A	NP_001182657.1:p.Pro192=
NM_001252652.2:c.576G>A	NP_001239581.1:p.Pro192=