Canonical Allele Identifier: CA473548966

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282510T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260963T>G , CM000673.2:g.35260963T>G	GRCh38
NC_000011.9:g.35282510T>G , CM000673.1:g.35282510T>G	GRCh37
NC_000011.8:g.35239086T>G	NCBI36
NG_008727.1:g.163596A>C
NG_008727.2:g.163596A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1656A>C MANE Select	ENSP00000278379.3:p.Val552=
ENST00000395750.6:c.1644A>C	ENSP00000379099.2:p.Val548=
ENST00000395753.6:c.1629A>C	ENSP00000379102.1:p.Val543=
ENST00000479543.2:n.1208A>C
ENST00000642171.1:c.*38A>C	ENSP00000495538.1:n.*38A>C
ENST00000642448.1:n.1748A>C
ENST00000642769.1:c.922A>C
ENST00000643000.1:c.1629A>C	ENSP00000495164.1:p.Val543=
ENST00000643134.1:c.1654-11A>C	ENSP00000495188.1:n.1654-11A>C
ENST00000643522.1:c.1422A>C	ENSP00000496375.1:p.Val474=
ENST00000644050.1:c.1629A>C	ENSP00000496123.1:p.Val543=
ENST00000644299.1:c.1629A>C	ENSP00000494669.1:p.Val543=
ENST00000644459.1:c.*148A>C	ENSP00000495861.1:n.*148A>C
ENST00000644779.1:c.1767A>C	ENSP00000494258.1:p.Val589=
ENST00000644868.1:c.1718A>C	ENSP00000496760.1:n.1718A>C
ENST00000645194.1:c.1629A>C	ENSP00000496093.1:p.Val543=
ENST00000645303.1:c.1671A>C	ENSP00000496667.1:p.Val557=
ENST00000645542.1:n.362A>C
ENST00000645634.1:c.1629A>C	ENSP00000493945.1:p.Val543=
ENST00000646080.1:c.1647A>C	ENSP00000494113.1:p.Val549=
ENST00000647076.1:c.397A>C
ENST00000647104.1:c.1629A>C	ENSP00000494025.1:p.Val543=
ENST00000278379.7:c.1656A>C	ENSP00000278379.3:p.Val552=
ENST00000395750.5:c.1629A>C	ENSP00000379099.1:p.Val543=
ENST00000395753.5:c.1629A>C	ENSP00000379102.1:p.Val543=
ENST00000464522.2:c.219+4564A>C	ENSP00000435406.1:n.219+4564A>C
ENST00000479543.1:n.472A>C
NM_001195728.2:c.1629A>C	NP_001182657.1:p.Val543=
NM_001252652.1:c.1629A>C	NP_001239581.1:p.Val543=
NM_004171.3:c.1656A>C	NP_004162.2:p.Val552=
XM_005253067.1:c.1647A>C	XP_005253124.1:p.Val549=
XM_011520284.1:c.1704A>C	XP_011518586.1:p.Val568=
XM_011520285.1:c.1644A>C	XP_011518587.1:p.Val548=
XM_011520286.1:c.1569A>C	XP_011518588.1:p.Val523=
XM_011520287.1:c.1470A>C	XP_011518589.1:p.Val490=
XM_011520285.2:c.1644A>C	XP_011518587.1:p.Val548=
XM_017018136.1:c.1671A>C	XP_016873625.1:p.Val557=
XM_017018137.1:c.1629A>C	XP_016873626.1:p.Val543=
XM_017018138.1:c.1629A>C	XP_016873627.1:p.Val543=
XM_017018139.1:c.1422A>C	XP_016873628.1:p.Val474=
NM_004171.4:c.1656A>C MANE Select	NP_004162.2:p.Val552=
NM_001195728.3:c.1629A>C	NP_001182657.1:p.Val543=
NM_001252652.2:c.1629A>C	NP_001239581.1:p.Val543=