Canonical Allele Identifier: CA351788472
Gene: SLC6A1 HGNC NCBI
SLC6A1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426798
dbSNP Id: rs1085307804

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.11017446G>A , CM000665.2:g.11017446G>A GRCh38
NC_000003.11:g.11059132G>A , CM000665.1:g.11059132G>A GRCh37
NC_000003.10:g.11034132G>A NCBI36
NG_053003.1:g.29718G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000698198.1:c.307G>A (SLC6A1) ENSP00000513602.1:p.Gly103Arg
ENST00000287766.10:c.235G>A (SLC6A1) MANE Select ENSP00000287766.4:p.Gly79Arg
ENST00000425938.6:c.-123+187G>A (SLC6A1) ENSP00000411689.2:n.-123+187G>A
ENST00000460480.2:c.235G>A (SLC6A1) ENSP00000494289.1:p.Gly79Arg
ENST00000462473.2:n.583G>A (SLC6A1)
ENST00000642201.1:c.235G>A (SLC6A1) ENSP00000494778.1:p.Gly79Arg
ENST00000642515.1:c.235G>A (SLC6A1) ENSP00000496348.1:p.Gly79Arg
ENST00000642639.1:c.235G>A (SLC6A1) ENSP00000494191.1:p.Gly79Arg
ENST00000642735.1:c.235G>A (SLC6A1) ENSP00000494050.1:p.Gly79Arg
ENST00000642767.1:c.235G>A (SLC6A1) ENSP00000494346.1:p.Gly79Arg
ENST00000642820.1:c.235G>A (SLC6A1) ENSP00000495900.1:p.Gly79Arg
ENST00000642831.1:n.626G>A (SLC6A1)
ENST00000643326.1:c.67G>A (SLC6A1) ENSP00000496465.1:p.Gly23Arg
ENST00000643396.1:c.235G>A (SLC6A1) ENSP00000494136.1:p.Gly79Arg
ENST00000643498.1:c.235G>A (SLC6A1) ENSP00000494997.1:p.Gly79Arg
ENST00000644175.1:c.235G>A (SLC6A1) ENSP00000493788.1:p.Gly79Arg
ENST00000644314.1:c.-123+187G>A (SLC6A1) ENSP00000493813.1:n.-123+187G>A
ENST00000644803.1:c.235G>A (SLC6A1) ENSP00000494469.1:p.Gly79Arg
ENST00000645029.1:c.235G>A (SLC6A1) ENSP00000496171.1:p.Gly79Arg
ENST00000645054.1:c.235G>A (SLC6A1) ENSP00000495751.1:p.Gly79Arg
ENST00000645281.1:c.-165+187G>A (SLC6A1) ENSP00000493746.1:n.-165+187G>A
ENST00000645575.1:c.235G>A (SLC6A1) ENSP00000493666.1:p.Gly79Arg
ENST00000645592.1:c.235G>A (SLC6A1) ENSP00000496619.1:p.Gly79Arg
ENST00000645598.1:n.67G>A (SLC6A1)
ENST00000645776.1:c.-165+187G>A (SLC6A1) ENSP00000495375.1:n.-165+187G>A
ENST00000645974.1:c.235G>A (SLC6A1) ENSP00000496390.1:p.Gly79Arg
ENST00000645985.1:c.44G>A (SLC6A1)
ENST00000646022.1:c.235G>A (SLC6A1) ENSP00000494134.1:p.Gly79Arg
ENST00000646035.1:n.557G>A (SLC6A1)
ENST00000646060.1:c.235G>A (SLC6A1) ENSP00000496302.1:p.Gly79Arg
ENST00000646072.1:c.-165+187G>A (SLC6A1) ENSP00000494002.1:n.-165+187G>A
ENST00000646088.1:c.235G>A (SLC6A1) ENSP00000494608.1:p.Gly79Arg
ENST00000646487.1:c.48+187G>A (SLC6A1) ENSP00000496768.1:n.48+187G>A
ENST00000646570.1:c.235G>A (SLC6A1) ENSP00000496064.1:p.Gly79Arg
ENST00000646702.1:c.235G>A (SLC6A1) ENSP00000496697.1:p.Gly79Arg
ENST00000646886.1:n.590G>A (SLC6A1)
ENST00000646924.1:c.235G>A (SLC6A1) ENSP00000493591.1:p.Gly79Arg
ENST00000647194.1:c.235G>A (SLC6A1) ENSP00000496238.1:p.Gly79Arg
ENST00000647384.1:c.235G>A (SLC6A1) ENSP00000493779.1:p.Gly79Arg
ENST00000287766.8:c.235G>A (SLC6A1) ENSP00000287766.4:p.Gly79Arg
ENST00000460480.1:n.144+187G>A (SLC6A1)
ENST00000462473.1:n.459+187G>A (SLC6A1)
NM_003042.3:c.235G>A (SLC6A1) NP_003033.3:p.Gly79Arg
NR_046647.1:n.105+1674C>T (SLC6A1-AS1)
XM_005265410.3:c.235G>A (SLC6A1) XP_005265467.1:p.Gly79Arg
XM_005265411.3:c.235G>A (SLC6A1) XP_005265468.1:p.Gly79Arg
XM_006713306.2:c.235G>A (SLC6A1) XP_006713369.1:p.Gly79Arg
XM_011534025.1:c.235G>A (SLC6A1) XP_011532327.1:p.Gly79Arg
XM_011534026.1:c.235G>A (SLC6A1) XP_011532328.1:p.Gly79Arg
XM_011534027.1:c.235G>A (SLC6A1) XP_011532329.1:p.Gly79Arg
XM_011534028.1:c.235G>A (SLC6A1) XP_011532330.1:p.Gly79Arg
NM_001348250.1:c.235G>A (SLC6A1) NP_001335179.1:p.Gly79Arg
NM_001348251.1:c.-123+187G>A (SLC6A1) NP_001335180.1:n.-123+187G>A
NM_001348252.1:c.-165+187G>A (SLC6A1) NP_001335181.1:n.-165+187G>A
NM_001348253.1:c.-165+187G>A (SLC6A1) NP_001335182.1:n.-165+187G>A
XM_005265410.5:c.235G>A (SLC6A1) XP_005265467.1:p.Gly79Arg
XM_005265411.5:c.235G>A (SLC6A1) XP_005265468.1:p.Gly79Arg
XM_011534025.3:c.235G>A (SLC6A1) XP_011532327.1:p.Gly79Arg
XM_011534027.3:c.235G>A (SLC6A1) XP_011532329.1:p.Gly79Arg
XM_017007071.2:c.235G>A (SLC6A1) XP_016862560.1:p.Gly79Arg
XM_017007072.2:c.235G>A (SLC6A1) XP_016862561.1:p.Gly79Arg
NM_003042.4:c.235G>A (SLC6A1) MANE Select NP_003033.3:p.Gly79Arg
NM_001348250.2:c.235G>A (SLC6A1) NP_001335179.1:p.Gly79Arg
NM_001348251.2:c.-123+187G>A (SLC6A1) NP_001335180.1:n.-123+187G>A
NM_001348252.2:c.-165+187G>A (SLC6A1) NP_001335181.1:n.-165+187G>A
NM_001348253.2:c.-165+187G>A (SLC6A1) NP_001335182.1:n.-165+187G>A