Canonical Allele Identifier: CA380124769

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282491T>A (hg19) ; chr11:g.35260944T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260944T>A , CM000673.2:g.35260944T>A	GRCh38
NC_000011.9:g.35282491T>A , CM000673.1:g.35282491T>A	GRCh37
NC_000011.8:g.35239067T>A	NCBI36
NG_008727.1:g.163615A>T
NG_008727.2:g.163615A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1675A>T MANE Select	ENSP00000278379.3:p.Lys559Ter
ENST00000395750.6:c.1663A>T	ENSP00000379099.2:p.Lys555Ter
ENST00000395753.6:c.1648A>T	ENSP00000379102.1:p.Lys550Ter
ENST00000479543.2:n.1227A>T
ENST00000642171.1:c.*57A>T	ENSP00000495538.1:n.*57A>T
ENST00000642448.1:n.1767A>T
ENST00000642769.1:c.941A>T
ENST00000643000.1:c.1648A>T	ENSP00000495164.1:p.Lys550Ter
ENST00000643134.1:c.1662A>T	ENSP00000495188.1:p.Glu554Asp
ENST00000643522.1:c.1441A>T	ENSP00000496375.1:p.Lys481Ter
ENST00000644050.1:c.1648A>T	ENSP00000496123.1:p.Lys550Ter
ENST00000644299.1:c.1648A>T	ENSP00000494669.1:p.Lys550Ter
ENST00000644459.1:c.*167A>T	ENSP00000495861.1:n.*167A>T
ENST00000644779.1:c.1786A>T	ENSP00000494258.1:p.Lys596Ter
ENST00000644868.1:c.1737A>T	ENSP00000496760.1:n.1737A>T
ENST00000645194.1:c.1648A>T	ENSP00000496093.1:p.Lys550Ter
ENST00000645303.1:c.1690A>T	ENSP00000496667.1:p.Lys564Ter
ENST00000645542.1:n.381A>T
ENST00000645634.1:c.1648A>T	ENSP00000493945.1:p.Lys550Ter
ENST00000646080.1:c.1666A>T	ENSP00000494113.1:p.Lys556Ter
ENST00000647076.1:c.416A>T
ENST00000647104.1:c.1648A>T	ENSP00000494025.1:p.Lys550Ter
ENST00000278379.7:c.1675A>T	ENSP00000278379.3:p.Lys559Ter
ENST00000395750.5:c.1648A>T	ENSP00000379099.1:p.Lys550Ter
ENST00000395753.5:c.1648A>T	ENSP00000379102.1:p.Lys550Ter
ENST00000464522.2:c.219+4583A>T	ENSP00000435406.1:n.219+4583A>T
ENST00000479543.1:n.491A>T
NM_001195728.2:c.1648A>T	NP_001182657.1:p.Lys550Ter
NM_001252652.1:c.1648A>T	NP_001239581.1:p.Lys550Ter
NM_004171.3:c.1675A>T	NP_004162.2:p.Lys559Ter
XM_005253067.1:c.1666A>T	XP_005253124.1:p.Lys556Ter
XM_011520284.1:c.1723A>T	XP_011518586.1:p.Lys575Ter
XM_011520285.1:c.1663A>T	XP_011518587.1:p.Lys555Ter
XM_011520286.1:c.1588A>T	XP_011518588.1:p.Lys530Ter
XM_011520287.1:c.1489A>T	XP_011518589.1:p.Lys497Ter
XM_011520285.2:c.1663A>T	XP_011518587.1:p.Lys555Ter
XM_017018136.1:c.1690A>T	XP_016873625.1:p.Lys564Ter
XM_017018137.1:c.1648A>T	XP_016873626.1:p.Lys550Ter
XM_017018138.1:c.1648A>T	XP_016873627.1:p.Lys550Ter
XM_017018139.1:c.1441A>T	XP_016873628.1:p.Lys481Ter
NM_004171.4:c.1675A>T MANE Select	NP_004162.2:p.Lys559Ter
NM_001195728.3:c.1648A>T	NP_001182657.1:p.Lys550Ter
NM_001252652.2:c.1648A>T	NP_001239581.1:p.Lys550Ter