Canonical Allele Identifier: CA380124705

Gene: SLC1A2

Linked Data

• gnomAD v4: 11-35260927-A-C
• MyVariant Identifiers: chr11:g.35282474A>C (hg19) ; chr11:g.35260927A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260927A>C , CM000673.2:g.35260927A>C	GRCh38
NC_000011.9:g.35282474A>C , CM000673.1:g.35282474A>C	GRCh37
NC_000011.8:g.35239050A>C	NCBI36
NG_008727.1:g.163632T>G
NG_008727.2:g.163632T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1692T>G MANE Select	ENSP00000278379.3:p.Ser564Arg
ENST00000395750.6:c.1680T>G	ENSP00000379099.2:p.Ser560Arg
ENST00000395753.6:c.1665T>G	ENSP00000379102.1:p.Ser555Arg
ENST00000479543.2:n.1244T>G
ENST00000642171.1:c.*74T>G	ENSP00000495538.1:n.*74T>G
ENST00000642448.1:n.1784T>G
ENST00000642769.1:c.958T>G
ENST00000643000.1:c.1665T>G	ENSP00000495164.1:p.Ser555Arg
ENST00000643134.1:c.1679T>G	ENSP00000495188.1:p.Val560Gly
ENST00000643522.1:c.1458T>G	ENSP00000496375.1:p.Ser486Arg
ENST00000644050.1:c.1665T>G	ENSP00000496123.1:p.Ser555Arg
ENST00000644299.1:c.1665T>G	ENSP00000494669.1:p.Ser555Arg
ENST00000644459.1:c.*184T>G	ENSP00000495861.1:n.*184T>G
ENST00000644779.1:c.1803T>G	ENSP00000494258.1:p.Ser601Arg
ENST00000644868.1:c.1754T>G	ENSP00000496760.1:n.1754T>G
ENST00000645194.1:c.1665T>G	ENSP00000496093.1:p.Ser555Arg
ENST00000645303.1:c.1707T>G	ENSP00000496667.1:p.Ser569Arg
ENST00000645542.1:n.398T>G
ENST00000645634.1:c.1665T>G	ENSP00000493945.1:p.Ser555Arg
ENST00000646080.1:c.1683T>G	ENSP00000494113.1:p.Ser561Arg
ENST00000647076.1:c.433T>G
ENST00000647104.1:c.1665T>G	ENSP00000494025.1:p.Ser555Arg
ENST00000278379.7:c.1692T>G	ENSP00000278379.3:p.Ser564Arg
ENST00000395750.5:c.1665T>G	ENSP00000379099.1:p.Ser555Arg
ENST00000395753.5:c.1665T>G	ENSP00000379102.1:p.Ser555Arg
ENST00000464522.2:c.219+4600T>G	ENSP00000435406.1:n.219+4600T>G
ENST00000479543.1:n.508T>G
NM_001195728.2:c.1665T>G	NP_001182657.1:p.Ser555Arg
NM_001252652.1:c.1665T>G	NP_001239581.1:p.Ser555Arg
NM_004171.3:c.1692T>G	NP_004162.2:p.Ser564Arg
XM_005253067.1:c.1683T>G	XP_005253124.1:p.Ser561Arg
XM_011520284.1:c.1740T>G	XP_011518586.1:p.Ser580Arg
XM_011520285.1:c.1680T>G	XP_011518587.1:p.Ser560Arg
XM_011520286.1:c.1605T>G	XP_011518588.1:p.Ser535Arg
XM_011520287.1:c.1506T>G	XP_011518589.1:p.Ser502Arg
XM_011520285.2:c.1680T>G	XP_011518587.1:p.Ser560Arg
XM_017018136.1:c.1707T>G	XP_016873625.1:p.Ser569Arg
XM_017018137.1:c.1665T>G	XP_016873626.1:p.Ser555Arg
XM_017018138.1:c.1665T>G	XP_016873627.1:p.Ser555Arg
XM_017018139.1:c.1458T>G	XP_016873628.1:p.Ser486Arg
NM_004171.4:c.1692T>G MANE Select	NP_004162.2:p.Ser564Arg
NM_001195728.3:c.1665T>G	NP_001182657.1:p.Ser555Arg
NM_001252652.2:c.1665T>G	NP_001239581.1:p.Ser555Arg