Canonical Allele Identifier: CA380124757

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282487G>T (hg19) ; chr11:g.35260940G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260940G>T , CM000673.2:g.35260940G>T	GRCh38
NC_000011.9:g.35282487G>T , CM000673.1:g.35282487G>T	GRCh37
NC_000011.8:g.35239063G>T	NCBI36
NG_008727.1:g.163619C>A
NG_008727.2:g.163619C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1679C>A MANE Select	ENSP00000278379.3:p.Ser560Ter
ENST00000395750.6:c.1667C>A	ENSP00000379099.2:p.Ser556Ter
ENST00000395753.6:c.1652C>A	ENSP00000379102.1:p.Ser551Ter
ENST00000479543.2:n.1231C>A
ENST00000642171.1:c.*61C>A	ENSP00000495538.1:n.*61C>A
ENST00000642448.1:n.1771C>A
ENST00000642769.1:c.945C>A
ENST00000643000.1:c.1652C>A	ENSP00000495164.1:p.Ser551Ter
ENST00000643134.1:c.1666C>A	ENSP00000495188.1:p.Gln556Lys
ENST00000643522.1:c.1445C>A	ENSP00000496375.1:p.Ser482Ter
ENST00000644050.1:c.1652C>A	ENSP00000496123.1:p.Ser551Ter
ENST00000644299.1:c.1652C>A	ENSP00000494669.1:p.Ser551Ter
ENST00000644459.1:c.*171C>A	ENSP00000495861.1:n.*171C>A
ENST00000644779.1:c.1790C>A	ENSP00000494258.1:p.Ser597Ter
ENST00000644868.1:c.1741C>A	ENSP00000496760.1:n.1741C>A
ENST00000645194.1:c.1652C>A	ENSP00000496093.1:p.Ser551Ter
ENST00000645303.1:c.1694C>A	ENSP00000496667.1:p.Ser565Ter
ENST00000645542.1:n.385C>A
ENST00000645634.1:c.1652C>A	ENSP00000493945.1:p.Ser551Ter
ENST00000646080.1:c.1670C>A	ENSP00000494113.1:p.Ser557Ter
ENST00000647076.1:c.420C>A
ENST00000647104.1:c.1652C>A	ENSP00000494025.1:p.Ser551Ter
ENST00000278379.7:c.1679C>A	ENSP00000278379.3:p.Ser560Ter
ENST00000395750.5:c.1652C>A	ENSP00000379099.1:p.Ser551Ter
ENST00000395753.5:c.1652C>A	ENSP00000379102.1:p.Ser551Ter
ENST00000464522.2:c.219+4587C>A	ENSP00000435406.1:n.219+4587C>A
ENST00000479543.1:n.495C>A
NM_001195728.2:c.1652C>A	NP_001182657.1:p.Ser551Ter
NM_001252652.1:c.1652C>A	NP_001239581.1:p.Ser551Ter
NM_004171.3:c.1679C>A	NP_004162.2:p.Ser560Ter
XM_005253067.1:c.1670C>A	XP_005253124.1:p.Ser557Ter
XM_011520284.1:c.1727C>A	XP_011518586.1:p.Ser576Ter
XM_011520285.1:c.1667C>A	XP_011518587.1:p.Ser556Ter
XM_011520286.1:c.1592C>A	XP_011518588.1:p.Ser531Ter
XM_011520287.1:c.1493C>A	XP_011518589.1:p.Ser498Ter
XM_011520285.2:c.1667C>A	XP_011518587.1:p.Ser556Ter
XM_017018136.1:c.1694C>A	XP_016873625.1:p.Ser565Ter
XM_017018137.1:c.1652C>A	XP_016873626.1:p.Ser551Ter
XM_017018138.1:c.1652C>A	XP_016873627.1:p.Ser551Ter
XM_017018139.1:c.1445C>A	XP_016873628.1:p.Ser482Ter
NM_004171.4:c.1679C>A MANE Select	NP_004162.2:p.Ser560Ter
NM_001195728.3:c.1652C>A	NP_001182657.1:p.Ser551Ter
NM_001252652.2:c.1652C>A	NP_001239581.1:p.Ser551Ter