Canonical Allele Identifier: CA5946986

Gene: SLC1A2

Linked Data

• dbSNP Id: rs766885690
• ExAC: 11:35282451 C / G
• gnomAD v2: 11-35282451-C-G
• gnomAD v4: 11-35260904-C-G
• MyVariant Identifiers: chr11:g.35282451C>G (hg19) ; chr11:g.35260904C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260904C>G , CM000673.2:g.35260904C>G	GRCh38
NC_000011.9:g.35282451C>G , CM000673.1:g.35282451C>G	GRCh37
NC_000011.8:g.35239027C>G	NCBI36
NG_008727.1:g.163655G>C
NG_008727.2:g.163655G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1715G>C MANE Select	ENSP00000278379.3:p.Arg572Pro
ENST00000395750.6:c.1703G>C	ENSP00000379099.2:p.Arg568Pro
ENST00000395753.6:c.1688G>C	ENSP00000379102.1:p.Arg563Pro
ENST00000479543.2:n.1267G>C
ENST00000642171.1:c.*97G>C	ENSP00000495538.1:n.*97G>C
ENST00000642448.1:n.1807G>C
ENST00000642769.1:c.981G>C
ENST00000643000.1:c.1688G>C	ENSP00000495164.1:p.Arg563Pro
ENST00000643134.1:c.1702G>C	ENSP00000495188.1:p.Val568Leu
ENST00000643522.1:c.1481G>C	ENSP00000496375.1:p.Arg494Pro
ENST00000644050.1:c.1688G>C	ENSP00000496123.1:p.Arg563Pro
ENST00000644299.1:c.1688G>C	ENSP00000494669.1:p.Arg563Pro
ENST00000644459.1:c.*207G>C	ENSP00000495861.1:n.*207G>C
ENST00000644779.1:c.1826G>C	ENSP00000494258.1:p.Arg609Pro
ENST00000644868.1:c.1777G>C	ENSP00000496760.1:n.1777G>C
ENST00000645194.1:c.1688G>C	ENSP00000496093.1:p.Arg563Pro
ENST00000645303.1:c.1730G>C	ENSP00000496667.1:p.Arg577Pro
ENST00000645542.1:n.421G>C
ENST00000645634.1:c.1688G>C	ENSP00000493945.1:p.Arg563Pro
ENST00000646080.1:c.1706G>C	ENSP00000494113.1:p.Arg569Pro
ENST00000647076.1:c.456G>C
ENST00000647104.1:c.1688G>C	ENSP00000494025.1:p.Arg563Pro
ENST00000278379.7:c.1715G>C	ENSP00000278379.3:p.Arg572Pro
ENST00000395750.5:c.1688G>C	ENSP00000379099.1:p.Arg563Pro
ENST00000395753.5:c.1688G>C	ENSP00000379102.1:p.Arg563Pro
ENST00000464522.2:c.219+4623G>C	ENSP00000435406.1:n.219+4623G>C
ENST00000479543.1:n.531G>C
NM_001195728.2:c.1688G>C	NP_001182657.1:p.Arg563Pro
NM_001252652.1:c.1688G>C	NP_001239581.1:p.Arg563Pro
NM_004171.3:c.1715G>C	NP_004162.2:p.Arg572Pro
XM_005253067.1:c.1706G>C	XP_005253124.1:p.Arg569Pro
XM_011520284.1:c.1763G>C	XP_011518586.1:p.Arg588Pro
XM_011520285.1:c.1703G>C	XP_011518587.1:p.Arg568Pro
XM_011520286.1:c.1628G>C	XP_011518588.1:p.Arg543Pro
XM_011520287.1:c.1529G>C	XP_011518589.1:p.Arg510Pro
XM_011520285.2:c.1703G>C	XP_011518587.1:p.Arg568Pro
XM_017018136.1:c.1730G>C	XP_016873625.1:p.Arg577Pro
XM_017018137.1:c.1688G>C	XP_016873626.1:p.Arg563Pro
XM_017018138.1:c.1688G>C	XP_016873627.1:p.Arg563Pro
XM_017018139.1:c.1481G>C	XP_016873628.1:p.Arg494Pro
NM_004171.4:c.1715G>C MANE Select	NP_004162.2:p.Arg572Pro
NM_001195728.3:c.1688G>C	NP_001182657.1:p.Arg563Pro
NM_001252652.2:c.1688G>C	NP_001239581.1:p.Arg563Pro