Canonical Allele Identifier: CA380124701

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282473C>G (hg19) ; chr11:g.35260926C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260926C>G , CM000673.2:g.35260926C>G	GRCh38
NC_000011.9:g.35282473C>G , CM000673.1:g.35282473C>G	GRCh37
NC_000011.8:g.35239049C>G	NCBI36
NG_008727.1:g.163633G>C
NG_008727.2:g.163633G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1693G>C MANE Select	ENSP00000278379.3:p.Val565Leu
ENST00000395750.6:c.1681G>C	ENSP00000379099.2:p.Val561Leu
ENST00000395753.6:c.1666G>C	ENSP00000379102.1:p.Val556Leu
ENST00000479543.2:n.1245G>C
ENST00000642171.1:c.*75G>C	ENSP00000495538.1:n.*75G>C
ENST00000642448.1:n.1785G>C
ENST00000642769.1:c.959G>C
ENST00000643000.1:c.1666G>C	ENSP00000495164.1:p.Val556Leu
ENST00000643134.1:c.1680G>C	ENSP00000495188.1:p.Val560=
ENST00000643522.1:c.1459G>C	ENSP00000496375.1:p.Val487Leu
ENST00000644050.1:c.1666G>C	ENSP00000496123.1:p.Val556Leu
ENST00000644299.1:c.1666G>C	ENSP00000494669.1:p.Val556Leu
ENST00000644459.1:c.*185G>C	ENSP00000495861.1:n.*185G>C
ENST00000644779.1:c.1804G>C	ENSP00000494258.1:p.Val602Leu
ENST00000644868.1:c.1755G>C	ENSP00000496760.1:n.1755G>C
ENST00000645194.1:c.1666G>C	ENSP00000496093.1:p.Val556Leu
ENST00000645303.1:c.1708G>C	ENSP00000496667.1:p.Val570Leu
ENST00000645542.1:n.399G>C
ENST00000645634.1:c.1666G>C	ENSP00000493945.1:p.Val556Leu
ENST00000646080.1:c.1684G>C	ENSP00000494113.1:p.Val562Leu
ENST00000647076.1:c.434G>C
ENST00000647104.1:c.1666G>C	ENSP00000494025.1:p.Val556Leu
ENST00000278379.7:c.1693G>C	ENSP00000278379.3:p.Val565Leu
ENST00000395750.5:c.1666G>C	ENSP00000379099.1:p.Val556Leu
ENST00000395753.5:c.1666G>C	ENSP00000379102.1:p.Val556Leu
ENST00000464522.2:c.219+4601G>C	ENSP00000435406.1:n.219+4601G>C
ENST00000479543.1:n.509G>C
NM_001195728.2:c.1666G>C	NP_001182657.1:p.Val556Leu
NM_001252652.1:c.1666G>C	NP_001239581.1:p.Val556Leu
NM_004171.3:c.1693G>C	NP_004162.2:p.Val565Leu
XM_005253067.1:c.1684G>C	XP_005253124.1:p.Val562Leu
XM_011520284.1:c.1741G>C	XP_011518586.1:p.Val581Leu
XM_011520285.1:c.1681G>C	XP_011518587.1:p.Val561Leu
XM_011520286.1:c.1606G>C	XP_011518588.1:p.Val536Leu
XM_011520287.1:c.1507G>C	XP_011518589.1:p.Val503Leu
XM_011520285.2:c.1681G>C	XP_011518587.1:p.Val561Leu
XM_017018136.1:c.1708G>C	XP_016873625.1:p.Val570Leu
XM_017018137.1:c.1666G>C	XP_016873626.1:p.Val556Leu
XM_017018138.1:c.1666G>C	XP_016873627.1:p.Val556Leu
XM_017018139.1:c.1459G>C	XP_016873628.1:p.Val487Leu
NM_004171.4:c.1693G>C MANE Select	NP_004162.2:p.Val565Leu
NM_001195728.3:c.1666G>C	NP_001182657.1:p.Val556Leu
NM_001252652.2:c.1666G>C	NP_001239581.1:p.Val556Leu