Canonical Allele Identifier: CA380124808

Gene: SLC1A2

Linked Data

• dbSNP Id: rs1591397126
• MyVariant Identifiers: chr11:g.35282503C>G (hg19) ; chr11:g.35260956C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260956C>G , CM000673.2:g.35260956C>G	GRCh38
NC_000011.9:g.35282503C>G , CM000673.1:g.35282503C>G	GRCh37
NC_000011.8:g.35239079C>G	NCBI36
NG_008727.1:g.163603G>C
NG_008727.2:g.163603G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1663G>C MANE Select	ENSP00000278379.3:p.Ala555Pro
ENST00000395750.6:c.1651G>C	ENSP00000379099.2:p.Ala551Pro
ENST00000395753.6:c.1636G>C	ENSP00000379102.1:p.Ala546Pro
ENST00000479543.2:n.1215G>C
ENST00000642171.1:c.*45G>C	ENSP00000495538.1:n.*45G>C
ENST00000642448.1:n.1755G>C
ENST00000642769.1:c.929G>C
ENST00000643000.1:c.1636G>C	ENSP00000495164.1:p.Ala546Pro
ENST00000643134.1:c.1654-4G>C	ENSP00000495188.1:n.1654-4G>C
ENST00000643522.1:c.1429G>C	ENSP00000496375.1:p.Ala477Pro
ENST00000644050.1:c.1636G>C	ENSP00000496123.1:p.Ala546Pro
ENST00000644299.1:c.1636G>C	ENSP00000494669.1:p.Ala546Pro
ENST00000644459.1:c.*155G>C	ENSP00000495861.1:n.*155G>C
ENST00000644779.1:c.1774G>C	ENSP00000494258.1:p.Ala592Pro
ENST00000644868.1:c.1725G>C	ENSP00000496760.1:n.1725G>C
ENST00000645194.1:c.1636G>C	ENSP00000496093.1:p.Ala546Pro
ENST00000645303.1:c.1678G>C	ENSP00000496667.1:p.Ala560Pro
ENST00000645542.1:n.369G>C
ENST00000645634.1:c.1636G>C	ENSP00000493945.1:p.Ala546Pro
ENST00000646080.1:c.1654G>C	ENSP00000494113.1:p.Ala552Pro
ENST00000647076.1:c.404G>C
ENST00000647104.1:c.1636G>C	ENSP00000494025.1:p.Ala546Pro
ENST00000278379.7:c.1663G>C	ENSP00000278379.3:p.Ala555Pro
ENST00000395750.5:c.1636G>C	ENSP00000379099.1:p.Ala546Pro
ENST00000395753.5:c.1636G>C	ENSP00000379102.1:p.Ala546Pro
ENST00000464522.2:c.219+4571G>C	ENSP00000435406.1:n.219+4571G>C
ENST00000479543.1:n.479G>C
NM_001195728.2:c.1636G>C	NP_001182657.1:p.Ala546Pro
NM_001252652.1:c.1636G>C	NP_001239581.1:p.Ala546Pro
NM_004171.3:c.1663G>C	NP_004162.2:p.Ala555Pro
XM_005253067.1:c.1654G>C	XP_005253124.1:p.Ala552Pro
XM_011520284.1:c.1711G>C	XP_011518586.1:p.Ala571Pro
XM_011520285.1:c.1651G>C	XP_011518587.1:p.Ala551Pro
XM_011520286.1:c.1576G>C	XP_011518588.1:p.Ala526Pro
XM_011520287.1:c.1477G>C	XP_011518589.1:p.Ala493Pro
XM_011520285.2:c.1651G>C	XP_011518587.1:p.Ala551Pro
XM_017018136.1:c.1678G>C	XP_016873625.1:p.Ala560Pro
XM_017018137.1:c.1636G>C	XP_016873626.1:p.Ala546Pro
XM_017018138.1:c.1636G>C	XP_016873627.1:p.Ala546Pro
XM_017018139.1:c.1429G>C	XP_016873628.1:p.Ala477Pro
NM_004171.4:c.1663G>C MANE Select	NP_004162.2:p.Ala555Pro
NM_001195728.3:c.1636G>C	NP_001182657.1:p.Ala546Pro
NM_001252652.2:c.1636G>C	NP_001239581.1:p.Ala546Pro