Canonical Allele Identifier: CA380122859

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35308382A>G (hg19) ; chr11:g.35286835A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35286835A>G , CM000673.2:g.35286835A>G	GRCh38
NC_000011.9:g.35308382A>G , CM000673.1:g.35308382A>G	GRCh37
NC_000011.8:g.35264958A>G	NCBI36
NG_008727.1:g.137724T>C
NG_008727.2:g.137724T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000278379.9:c.1208T>C MANE Select	ENSP00000278379.3:p.Leu403Pro
ENST00000395750.6:c.1196T>C	ENSP00000379099.2:p.Leu399Pro
ENST00000395753.6:c.1181T>C	ENSP00000379102.1:p.Leu394Pro
ENST00000449068.2:c.1208T>C	ENSP00000406133.2:p.Leu403Pro
ENST00000479543.2:n.760T>C
ENST00000531628.2:c.1208T>C	ENSP00000436029.2:p.Leu403Pro
ENST00000606205.6:c.1208T>C	ENSP00000476124.2:p.Leu403Pro
ENST00000642171.1:c.1208T>C	ENSP00000495538.1:p.Leu403Pro
ENST00000642183.1:n.1236T>C
ENST00000642216.1:n.756T>C
ENST00000642224.1:n.1370T>C
ENST00000642448.1:n.1300T>C
ENST00000642578.1:c.1181T>C	ENSP00000494076.1:p.Leu394Pro
ENST00000642769.1:c.474T>C
ENST00000643000.1:c.1181T>C	ENSP00000495164.1:p.Leu394Pro
ENST00000643134.1:c.1208T>C	ENSP00000495188.1:p.Leu403Pro
ENST00000643305.1:c.1208T>C	ENSP00000494828.1:p.Leu403Pro
ENST00000643454.1:c.1199T>C	ENSP00000495126.1:p.Leu400Pro
ENST00000643522.1:c.974T>C	ENSP00000496375.1:p.Leu325Pro
ENST00000644050.1:c.1181T>C	ENSP00000496123.1:p.Leu394Pro
ENST00000644299.1:c.1181T>C	ENSP00000494669.1:p.Leu394Pro
ENST00000644351.1:c.1208T>C	ENSP00000496587.1:p.Leu403Pro
ENST00000644459.1:c.1208T>C	ENSP00000495861.1:p.Leu403Pro
ENST00000644779.1:c.1319T>C	ENSP00000494258.1:p.Leu440Pro
ENST00000644868.1:c.1199T>C	ENSP00000496760.1:p.Leu400Pro
ENST00000645194.1:c.1181T>C	ENSP00000496093.1:p.Leu394Pro
ENST00000645303.1:c.1223T>C	ENSP00000496667.1:p.Leu408Pro
ENST00000645634.1:c.1181T>C	ENSP00000493945.1:p.Leu394Pro
ENST00000645892.1:n.1313T>C
ENST00000646080.1:c.1199T>C	ENSP00000494113.1:p.Leu400Pro
ENST00000646099.1:c.1196T>C	ENSP00000495799.1:p.Leu399Pro
ENST00000646167.1:c.824T>C	ENSP00000495246.1:p.Leu275Pro
ENST00000646585.1:n.1363T>C
ENST00000647076.1:c.84T>C
ENST00000647104.1:c.1181T>C	ENSP00000494025.1:p.Leu394Pro
ENST00000647193.1:n.334T>C
ENST00000647372.1:c.1181T>C	ENSP00000495277.1:p.Leu394Pro
ENST00000278379.7:c.1208T>C	ENSP00000278379.3:p.Leu403Pro
ENST00000395750.5:c.1181T>C	ENSP00000379099.1:p.Leu394Pro
ENST00000395753.5:c.1181T>C	ENSP00000379102.1:p.Leu394Pro
ENST00000531628.1:c.361T>C
ENST00000606205.5:c.1208T>C	ENSP00000476124.1:p.Leu403Pro
NM_001195728.2:c.1181T>C	NP_001182657.1:p.Leu394Pro
NM_001252652.1:c.1181T>C	NP_001239581.1:p.Leu394Pro
NM_004171.3:c.1208T>C	NP_004162.2:p.Leu403Pro
XM_005253067.1:c.1199T>C	XP_005253124.1:p.Leu400Pro
XM_011520284.1:c.1256T>C	XP_011518586.1:p.Leu419Pro
XM_011520285.1:c.1196T>C	XP_011518587.1:p.Leu399Pro
XM_011520286.1:c.1256T>C	XP_011518588.1:p.Leu419Pro
XM_011520287.1:c.1022T>C	XP_011518589.1:p.Leu341Pro
XM_011520285.2:c.1196T>C	XP_011518587.1:p.Leu399Pro
XM_017018136.1:c.1223T>C	XP_016873625.1:p.Leu408Pro
XM_017018137.1:c.1181T>C	XP_016873626.1:p.Leu394Pro
XM_017018138.1:c.1181T>C	XP_016873627.1:p.Leu394Pro
XM_017018139.1:c.974T>C	XP_016873628.1:p.Leu325Pro
NM_004171.4:c.1208T>C MANE Select	NP_004162.2:p.Leu403Pro
NM_001195728.3:c.1181T>C	NP_001182657.1:p.Leu394Pro
NM_001252652.2:c.1181T>C	NP_001239581.1:p.Leu394Pro