Canonical Allele Identifier: CA380124833

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282511A>G (hg19) ; chr11:g.35260964A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260964A>G , CM000673.2:g.35260964A>G	GRCh38
NC_000011.9:g.35282511A>G , CM000673.1:g.35282511A>G	GRCh37
NC_000011.8:g.35239087A>G	NCBI36
NG_008727.1:g.163595T>C
NG_008727.2:g.163595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1655T>C MANE Select	ENSP00000278379.3:p.Val552Ala
ENST00000395750.6:c.1643T>C	ENSP00000379099.2:p.Val548Ala
ENST00000395753.6:c.1628T>C	ENSP00000379102.1:p.Val543Ala
ENST00000479543.2:n.1207T>C
ENST00000642171.1:c.*37T>C	ENSP00000495538.1:n.*37T>C
ENST00000642448.1:n.1747T>C
ENST00000642769.1:c.921T>C
ENST00000643000.1:c.1628T>C	ENSP00000495164.1:p.Val543Ala
ENST00000643134.1:c.1654-12T>C	ENSP00000495188.1:n.1654-12T>C
ENST00000643522.1:c.1421T>C	ENSP00000496375.1:p.Val474Ala
ENST00000644050.1:c.1628T>C	ENSP00000496123.1:p.Val543Ala
ENST00000644299.1:c.1628T>C	ENSP00000494669.1:p.Val543Ala
ENST00000644459.1:c.*147T>C	ENSP00000495861.1:n.*147T>C
ENST00000644779.1:c.1766T>C	ENSP00000494258.1:p.Val589Ala
ENST00000644868.1:c.1717T>C	ENSP00000496760.1:n.1717T>C
ENST00000645194.1:c.1628T>C	ENSP00000496093.1:p.Val543Ala
ENST00000645303.1:c.1670T>C	ENSP00000496667.1:p.Val557Ala
ENST00000645542.1:n.361T>C
ENST00000645634.1:c.1628T>C	ENSP00000493945.1:p.Val543Ala
ENST00000646080.1:c.1646T>C	ENSP00000494113.1:p.Val549Ala
ENST00000647076.1:c.396T>C
ENST00000647104.1:c.1628T>C	ENSP00000494025.1:p.Val543Ala
ENST00000278379.7:c.1655T>C	ENSP00000278379.3:p.Val552Ala
ENST00000395750.5:c.1628T>C	ENSP00000379099.1:p.Val543Ala
ENST00000395753.5:c.1628T>C	ENSP00000379102.1:p.Val543Ala
ENST00000464522.2:c.219+4563T>C	ENSP00000435406.1:n.219+4563T>C
ENST00000479543.1:n.471T>C
NM_001195728.2:c.1628T>C	NP_001182657.1:p.Val543Ala
NM_001252652.1:c.1628T>C	NP_001239581.1:p.Val543Ala
NM_004171.3:c.1655T>C	NP_004162.2:p.Val552Ala
XM_005253067.1:c.1646T>C	XP_005253124.1:p.Val549Ala
XM_011520284.1:c.1703T>C	XP_011518586.1:p.Val568Ala
XM_011520285.1:c.1643T>C	XP_011518587.1:p.Val548Ala
XM_011520286.1:c.1568T>C	XP_011518588.1:p.Val523Ala
XM_011520287.1:c.1469T>C	XP_011518589.1:p.Val490Ala
XM_011520285.2:c.1643T>C	XP_011518587.1:p.Val548Ala
XM_017018136.1:c.1670T>C	XP_016873625.1:p.Val557Ala
XM_017018137.1:c.1628T>C	XP_016873626.1:p.Val543Ala
XM_017018138.1:c.1628T>C	XP_016873627.1:p.Val543Ala
XM_017018139.1:c.1421T>C	XP_016873628.1:p.Val474Ala
NM_004171.4:c.1655T>C MANE Select	NP_004162.2:p.Val552Ala
NM_001195728.3:c.1628T>C	NP_001182657.1:p.Val543Ala
NM_001252652.2:c.1628T>C	NP_001239581.1:p.Val543Ala