Canonical Allele Identifier: CA380124818

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282506G>T (hg19) ; chr11:g.35260959G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260959G>T , CM000673.2:g.35260959G>T	GRCh38
NC_000011.9:g.35282506G>T , CM000673.1:g.35282506G>T	GRCh37
NC_000011.8:g.35239082G>T	NCBI36
NG_008727.1:g.163600C>A
NG_008727.2:g.163600C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1660C>A MANE Select	ENSP00000278379.3:p.Leu554Met
ENST00000395750.6:c.1648C>A	ENSP00000379099.2:p.Leu550Met
ENST00000395753.6:c.1633C>A	ENSP00000379102.1:p.Leu545Met
ENST00000479543.2:n.1212C>A
ENST00000642171.1:c.*42C>A	ENSP00000495538.1:n.*42C>A
ENST00000642448.1:n.1752C>A
ENST00000642769.1:c.926C>A
ENST00000643000.1:c.1633C>A	ENSP00000495164.1:p.Leu545Met
ENST00000643134.1:c.1654-7C>A	ENSP00000495188.1:n.1654-7C>A
ENST00000643522.1:c.1426C>A	ENSP00000496375.1:p.Leu476Met
ENST00000644050.1:c.1633C>A	ENSP00000496123.1:p.Leu545Met
ENST00000644299.1:c.1633C>A	ENSP00000494669.1:p.Leu545Met
ENST00000644459.1:c.*152C>A	ENSP00000495861.1:n.*152C>A
ENST00000644779.1:c.1771C>A	ENSP00000494258.1:p.Leu591Met
ENST00000644868.1:c.1722C>A	ENSP00000496760.1:n.1722C>A
ENST00000645194.1:c.1633C>A	ENSP00000496093.1:p.Leu545Met
ENST00000645303.1:c.1675C>A	ENSP00000496667.1:p.Leu559Met
ENST00000645542.1:n.366C>A
ENST00000645634.1:c.1633C>A	ENSP00000493945.1:p.Leu545Met
ENST00000646080.1:c.1651C>A	ENSP00000494113.1:p.Leu551Met
ENST00000647076.1:c.401C>A
ENST00000647104.1:c.1633C>A	ENSP00000494025.1:p.Leu545Met
ENST00000278379.7:c.1660C>A	ENSP00000278379.3:p.Leu554Met
ENST00000395750.5:c.1633C>A	ENSP00000379099.1:p.Leu545Met
ENST00000395753.5:c.1633C>A	ENSP00000379102.1:p.Leu545Met
ENST00000464522.2:c.219+4568C>A	ENSP00000435406.1:n.219+4568C>A
ENST00000479543.1:n.476C>A
NM_001195728.2:c.1633C>A	NP_001182657.1:p.Leu545Met
NM_001252652.1:c.1633C>A	NP_001239581.1:p.Leu545Met
NM_004171.3:c.1660C>A	NP_004162.2:p.Leu554Met
XM_005253067.1:c.1651C>A	XP_005253124.1:p.Leu551Met
XM_011520284.1:c.1708C>A	XP_011518586.1:p.Leu570Met
XM_011520285.1:c.1648C>A	XP_011518587.1:p.Leu550Met
XM_011520286.1:c.1573C>A	XP_011518588.1:p.Leu525Met
XM_011520287.1:c.1474C>A	XP_011518589.1:p.Leu492Met
XM_011520285.2:c.1648C>A	XP_011518587.1:p.Leu550Met
XM_017018136.1:c.1675C>A	XP_016873625.1:p.Leu559Met
XM_017018137.1:c.1633C>A	XP_016873626.1:p.Leu545Met
XM_017018138.1:c.1633C>A	XP_016873627.1:p.Leu545Met
XM_017018139.1:c.1426C>A	XP_016873628.1:p.Leu476Met
NM_004171.4:c.1660C>A MANE Select	NP_004162.2:p.Leu554Met
NM_001195728.3:c.1633C>A	NP_001182657.1:p.Leu545Met
NM_001252652.2:c.1633C>A	NP_001239581.1:p.Leu545Met