Canonical Allele Identifier: CA473548929

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282477G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260930G>A , CM000673.2:g.35260930G>A	GRCh38
NC_000011.9:g.35282477G>A , CM000673.1:g.35282477G>A	GRCh37
NC_000011.8:g.35239053G>A	NCBI36
NG_008727.1:g.163629C>T
NG_008727.2:g.163629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1689C>T MANE Select	ENSP00000278379.3:p.Cys563=
ENST00000395750.6:c.1677C>T	ENSP00000379099.2:p.Cys559=
ENST00000395753.6:c.1662C>T	ENSP00000379102.1:p.Cys554=
ENST00000479543.2:n.1241C>T
ENST00000642171.1:c.*71C>T	ENSP00000495538.1:n.*71C>T
ENST00000642448.1:n.1781C>T
ENST00000642769.1:c.955C>T
ENST00000643000.1:c.1662C>T	ENSP00000495164.1:p.Cys554=
ENST00000643134.1:c.1676C>T	ENSP00000495188.1:p.Ala559Val
ENST00000643522.1:c.1455C>T	ENSP00000496375.1:p.Cys485=
ENST00000644050.1:c.1662C>T	ENSP00000496123.1:p.Cys554=
ENST00000644299.1:c.1662C>T	ENSP00000494669.1:p.Cys554=
ENST00000644459.1:c.*181C>T	ENSP00000495861.1:n.*181C>T
ENST00000644779.1:c.1800C>T	ENSP00000494258.1:p.Cys600=
ENST00000644868.1:c.1751C>T	ENSP00000496760.1:n.1751C>T
ENST00000645194.1:c.1662C>T	ENSP00000496093.1:p.Cys554=
ENST00000645303.1:c.1704C>T	ENSP00000496667.1:p.Cys568=
ENST00000645542.1:n.395C>T
ENST00000645634.1:c.1662C>T	ENSP00000493945.1:p.Cys554=
ENST00000646080.1:c.1680C>T	ENSP00000494113.1:p.Cys560=
ENST00000647076.1:c.430C>T
ENST00000647104.1:c.1662C>T	ENSP00000494025.1:p.Cys554=
ENST00000278379.7:c.1689C>T	ENSP00000278379.3:p.Cys563=
ENST00000395750.5:c.1662C>T	ENSP00000379099.1:p.Cys554=
ENST00000395753.5:c.1662C>T	ENSP00000379102.1:p.Cys554=
ENST00000464522.2:c.219+4597C>T	ENSP00000435406.1:n.219+4597C>T
ENST00000479543.1:n.505C>T
NM_001195728.2:c.1662C>T	NP_001182657.1:p.Cys554=
NM_001252652.1:c.1662C>T	NP_001239581.1:p.Cys554=
NM_004171.3:c.1689C>T	NP_004162.2:p.Cys563=
XM_005253067.1:c.1680C>T	XP_005253124.1:p.Cys560=
XM_011520284.1:c.1737C>T	XP_011518586.1:p.Cys579=
XM_011520285.1:c.1677C>T	XP_011518587.1:p.Cys559=
XM_011520286.1:c.1602C>T	XP_011518588.1:p.Cys534=
XM_011520287.1:c.1503C>T	XP_011518589.1:p.Cys501=
XM_011520285.2:c.1677C>T	XP_011518587.1:p.Cys559=
XM_017018136.1:c.1704C>T	XP_016873625.1:p.Cys568=
XM_017018137.1:c.1662C>T	XP_016873626.1:p.Cys554=
XM_017018138.1:c.1662C>T	XP_016873627.1:p.Cys554=
XM_017018139.1:c.1455C>T	XP_016873628.1:p.Cys485=
NM_004171.4:c.1689C>T MANE Select	NP_004162.2:p.Cys563=
NM_001195728.3:c.1662C>T	NP_001182657.1:p.Cys554=
NM_001252652.2:c.1662C>T	NP_001239581.1:p.Cys554=