Canonical Allele Identifier: CA473545873
Gene: SLC1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.35308332G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.35286785G>A , CM000673.2:g.35286785G>A GRCh38
NC_000011.9:g.35308332G>A , CM000673.1:g.35308332G>A GRCh37
NC_000011.8:g.35264908G>A NCBI36
NG_008727.1:g.137774C>T
NG_008727.2:g.137774C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278379.9:c.1258C>T MANE Select ENSP00000278379.3:p.Leu420=
ENST00000395750.6:c.1246C>T ENSP00000379099.2:p.Leu416=
ENST00000395753.6:c.1231C>T ENSP00000379102.1:p.Leu411=
ENST00000479543.2:n.810C>T
ENST00000531628.2:c.1258C>T ENSP00000436029.2:p.Leu420=
ENST00000606205.6:c.1258C>T ENSP00000476124.2:p.Leu420=
ENST00000642171.1:c.1258C>T ENSP00000495538.1:p.Leu420=
ENST00000642216.1:n.806C>T
ENST00000642448.1:n.1350C>T
ENST00000642578.1:c.1231C>T ENSP00000494076.1:p.Leu411=
ENST00000642769.1:c.524C>T
ENST00000643000.1:c.1231C>T ENSP00000495164.1:p.Leu411=
ENST00000643134.1:c.1258C>T ENSP00000495188.1:p.Leu420=
ENST00000643305.1:c.1258C>T ENSP00000494828.1:p.Leu420=
ENST00000643454.1:c.1249C>T ENSP00000495126.1:p.Leu417=
ENST00000643522.1:c.1024C>T ENSP00000496375.1:p.Leu342=
ENST00000644050.1:c.1231C>T ENSP00000496123.1:p.Leu411=
ENST00000644299.1:c.1231C>T ENSP00000494669.1:p.Leu411=
ENST00000644351.1:c.1258C>T ENSP00000496587.1:p.Leu420=
ENST00000644459.1:c.1258C>T ENSP00000495861.1:p.Leu420=
ENST00000644779.1:c.1369C>T ENSP00000494258.1:p.Leu457=
ENST00000644868.1:c.1249C>T ENSP00000496760.1:p.Leu417=
ENST00000645194.1:c.1231C>T ENSP00000496093.1:p.Leu411=
ENST00000645303.1:c.1273C>T ENSP00000496667.1:p.Leu425=
ENST00000645634.1:c.1231C>T ENSP00000493945.1:p.Leu411=
ENST00000646080.1:c.1249C>T ENSP00000494113.1:p.Leu417=
ENST00000646099.1:c.1246C>T ENSP00000495799.1:p.Leu416=
ENST00000646167.1:c.874C>T ENSP00000495246.1:p.Leu292=
ENST00000647076.1:c.134C>T
ENST00000647104.1:c.1231C>T ENSP00000494025.1:p.Leu411=
ENST00000647193.1:n.384C>T
ENST00000647372.1:c.1231C>T ENSP00000495277.1:p.Leu411=
ENST00000278379.7:c.1258C>T ENSP00000278379.3:p.Leu420=
ENST00000395750.5:c.1231C>T ENSP00000379099.1:p.Leu411=
ENST00000395753.5:c.1231C>T ENSP00000379102.1:p.Leu411=
ENST00000479543.1:n.3C>T
ENST00000531628.1:c.411C>T
ENST00000606205.5:c.1258C>T ENSP00000476124.1:p.Leu420=
NM_001195728.2:c.1231C>T NP_001182657.1:p.Leu411=
NM_001252652.1:c.1231C>T NP_001239581.1:p.Leu411=
NM_004171.3:c.1258C>T NP_004162.2:p.Leu420=
XM_005253067.1:c.1249C>T XP_005253124.1:p.Leu417=
XM_011520284.1:c.1306C>T XP_011518586.1:p.Leu436=
XM_011520285.1:c.1246C>T XP_011518587.1:p.Leu416=
XM_011520286.1:c.1306C>T XP_011518588.1:p.Leu436=
XM_011520287.1:c.1072C>T XP_011518589.1:p.Leu358=
XM_011520285.2:c.1246C>T XP_011518587.1:p.Leu416=
XM_017018136.1:c.1273C>T XP_016873625.1:p.Leu425=
XM_017018137.1:c.1231C>T XP_016873626.1:p.Leu411=
XM_017018138.1:c.1231C>T XP_016873627.1:p.Leu411=
XM_017018139.1:c.1024C>T XP_016873628.1:p.Leu342=
NM_004171.4:c.1258C>T MANE Select NP_004162.2:p.Leu420=
NM_001195728.3:c.1231C>T NP_001182657.1:p.Leu411=
NM_001252652.2:c.1231C>T NP_001239581.1:p.Leu411=