Canonical Allele Identifier: CA380124811

Gene: SLC1A2

Linked Data

• gnomAD v4: 11-35260958-A-C
• MyVariant Identifiers: chr11:g.35282505A>C (hg19) ; chr11:g.35260958A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260958A>C , CM000673.2:g.35260958A>C	GRCh38
NC_000011.9:g.35282505A>C , CM000673.1:g.35282505A>C	GRCh37
NC_000011.8:g.35239081A>C	NCBI36
NG_008727.1:g.163601T>G
NG_008727.2:g.163601T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1661T>G MANE Select	ENSP00000278379.3:p.Leu554Arg
ENST00000395750.6:c.1649T>G	ENSP00000379099.2:p.Leu550Arg
ENST00000395753.6:c.1634T>G	ENSP00000379102.1:p.Leu545Arg
ENST00000479543.2:n.1213T>G
ENST00000642171.1:c.*43T>G	ENSP00000495538.1:n.*43T>G
ENST00000642448.1:n.1753T>G
ENST00000642769.1:c.927T>G
ENST00000643000.1:c.1634T>G	ENSP00000495164.1:p.Leu545Arg
ENST00000643134.1:c.1654-6T>G	ENSP00000495188.1:n.1654-6T>G
ENST00000643522.1:c.1427T>G	ENSP00000496375.1:p.Leu476Arg
ENST00000644050.1:c.1634T>G	ENSP00000496123.1:p.Leu545Arg
ENST00000644299.1:c.1634T>G	ENSP00000494669.1:p.Leu545Arg
ENST00000644459.1:c.*153T>G	ENSP00000495861.1:n.*153T>G
ENST00000644779.1:c.1772T>G	ENSP00000494258.1:p.Leu591Arg
ENST00000644868.1:c.1723T>G	ENSP00000496760.1:n.1723T>G
ENST00000645194.1:c.1634T>G	ENSP00000496093.1:p.Leu545Arg
ENST00000645303.1:c.1676T>G	ENSP00000496667.1:p.Leu559Arg
ENST00000645542.1:n.367T>G
ENST00000645634.1:c.1634T>G	ENSP00000493945.1:p.Leu545Arg
ENST00000646080.1:c.1652T>G	ENSP00000494113.1:p.Leu551Arg
ENST00000647076.1:c.402T>G
ENST00000647104.1:c.1634T>G	ENSP00000494025.1:p.Leu545Arg
ENST00000278379.7:c.1661T>G	ENSP00000278379.3:p.Leu554Arg
ENST00000395750.5:c.1634T>G	ENSP00000379099.1:p.Leu545Arg
ENST00000395753.5:c.1634T>G	ENSP00000379102.1:p.Leu545Arg
ENST00000464522.2:c.219+4569T>G	ENSP00000435406.1:n.219+4569T>G
ENST00000479543.1:n.477T>G
NM_001195728.2:c.1634T>G	NP_001182657.1:p.Leu545Arg
NM_001252652.1:c.1634T>G	NP_001239581.1:p.Leu545Arg
NM_004171.3:c.1661T>G	NP_004162.2:p.Leu554Arg
XM_005253067.1:c.1652T>G	XP_005253124.1:p.Leu551Arg
XM_011520284.1:c.1709T>G	XP_011518586.1:p.Leu570Arg
XM_011520285.1:c.1649T>G	XP_011518587.1:p.Leu550Arg
XM_011520286.1:c.1574T>G	XP_011518588.1:p.Leu525Arg
XM_011520287.1:c.1475T>G	XP_011518589.1:p.Leu492Arg
XM_011520285.2:c.1649T>G	XP_011518587.1:p.Leu550Arg
XM_017018136.1:c.1676T>G	XP_016873625.1:p.Leu559Arg
XM_017018137.1:c.1634T>G	XP_016873626.1:p.Leu545Arg
XM_017018138.1:c.1634T>G	XP_016873627.1:p.Leu545Arg
XM_017018139.1:c.1427T>G	XP_016873628.1:p.Leu476Arg
NM_004171.4:c.1661T>G MANE Select	NP_004162.2:p.Leu554Arg
NM_001195728.3:c.1634T>G	NP_001182657.1:p.Leu545Arg
NM_001252652.2:c.1634T>G	NP_001239581.1:p.Leu545Arg