Canonical Allele Identifier: CA200217

Gene: SLC6A1 SLC6A1-AS1

Linked Data

• ClinVar Variation Id: 192368
• ClinVar RCV Id: RCV001092965 ; RCV003156080 ; RCV003444212 ; RCV003595872
• dbSNP Id: rs794726859
• MyVariant Identifiers: chr3:g.11059028G>A (hg19) ; chr3:g.11017342G>A (hg38)
• PubMed: PMID:25865495

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.11017342G>A , CM000665.2:g.11017342G>A	GRCh38
NC_000003.11:g.11059028G>A , CM000665.1:g.11059028G>A	GRCh37
NC_000003.10:g.11034028G>A	NCBI36
NG_053003.1:g.29614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698198.1:c.203G>A (SLC6A1)	ENSP00000513602.1:p.Arg68Gln
ENST00000287766.10:c.131G>A (SLC6A1) MANE Select	ENSP00000287766.4:p.Arg44Gln
ENST00000425938.6:c.-123+83G>A (SLC6A1)	ENSP00000411689.2:n.-123+83G>A
ENST00000460480.2:c.131G>A (SLC6A1)	ENSP00000494289.1:p.Arg44Gln
ENST00000462473.2:n.479G>A (SLC6A1)
ENST00000642201.1:c.131G>A (SLC6A1)	ENSP00000494778.1:p.Arg44Gln
ENST00000642515.1:c.131G>A (SLC6A1)	ENSP00000496348.1:p.Arg44Gln
ENST00000642639.1:c.131G>A (SLC6A1)	ENSP00000494191.1:p.Arg44Gln
ENST00000642735.1:c.131G>A (SLC6A1)	ENSP00000494050.1:p.Arg44Gln
ENST00000642767.1:c.131G>A (SLC6A1)	ENSP00000494346.1:p.Arg44Gln
ENST00000642820.1:c.131G>A (SLC6A1)	ENSP00000495900.1:p.Arg44Gln
ENST00000642831.1:n.522G>A (SLC6A1)
ENST00000643396.1:c.131G>A (SLC6A1)	ENSP00000494136.1:p.Arg44Gln
ENST00000643498.1:c.131G>A (SLC6A1)	ENSP00000494997.1:p.Arg44Gln
ENST00000644175.1:c.131G>A (SLC6A1)	ENSP00000493788.1:p.Arg44Gln
ENST00000644314.1:c.-123+83G>A (SLC6A1)	ENSP00000493813.1:n.-123+83G>A
ENST00000644803.1:c.131G>A (SLC6A1)	ENSP00000494469.1:p.Arg44Gln
ENST00000645029.1:c.131G>A (SLC6A1)	ENSP00000496171.1:p.Arg44Gln
ENST00000645054.1:c.131G>A (SLC6A1)	ENSP00000495751.1:p.Arg44Gln
ENST00000645281.1:c.-165+83G>A (SLC6A1)	ENSP00000493746.1:n.-165+83G>A
ENST00000645575.1:c.131G>A (SLC6A1)	ENSP00000493666.1:p.Arg44Gln
ENST00000645592.1:c.131G>A (SLC6A1)	ENSP00000496619.1:p.Arg44Gln
ENST00000645776.1:c.-165+83G>A (SLC6A1)	ENSP00000495375.1:n.-165+83G>A
ENST00000645974.1:c.131G>A (SLC6A1)	ENSP00000496390.1:p.Arg44Gln
ENST00000646022.1:c.131G>A (SLC6A1)	ENSP00000494134.1:p.Arg44Gln
ENST00000646035.1:n.453G>A (SLC6A1)
ENST00000646060.1:c.131G>A (SLC6A1)	ENSP00000496302.1:p.Arg44Gln
ENST00000646072.1:c.-165+83G>A (SLC6A1)	ENSP00000494002.1:n.-165+83G>A
ENST00000646088.1:c.131G>A (SLC6A1)	ENSP00000494608.1:p.Arg44Gln
ENST00000646487.1:c.48+83G>A (SLC6A1)	ENSP00000496768.1:n.48+83G>A
ENST00000646570.1:c.131G>A (SLC6A1)	ENSP00000496064.1:p.Arg44Gln
ENST00000646702.1:c.131G>A (SLC6A1)	ENSP00000496697.1:p.Arg44Gln
ENST00000646886.1:n.486G>A (SLC6A1)
ENST00000646924.1:c.131G>A (SLC6A1)	ENSP00000493591.1:p.Arg44Gln
ENST00000647194.1:c.131G>A (SLC6A1)	ENSP00000496238.1:p.Arg44Gln
ENST00000647384.1:c.131G>A (SLC6A1)	ENSP00000493779.1:p.Arg44Gln
ENST00000287766.8:c.131G>A (SLC6A1)	ENSP00000287766.4:p.Arg44Gln
ENST00000460480.1:n.144+83G>A (SLC6A1)
ENST00000462473.1:n.459+83G>A (SLC6A1)
NM_003042.3:c.131G>A (SLC6A1)	NP_003033.3:p.Arg44Gln
NR_046647.1:n.105+1778C>T (SLC6A1-AS1)
XM_005265410.3:c.131G>A (SLC6A1)	XP_005265467.1:p.Arg44Gln
XM_005265411.3:c.131G>A (SLC6A1)	XP_005265468.1:p.Arg44Gln
XM_006713306.2:c.131G>A (SLC6A1)	XP_006713369.1:p.Arg44Gln
XM_011534025.1:c.131G>A (SLC6A1)	XP_011532327.1:p.Arg44Gln
XM_011534026.1:c.131G>A (SLC6A1)	XP_011532328.1:p.Arg44Gln
XM_011534027.1:c.131G>A (SLC6A1)	XP_011532329.1:p.Arg44Gln
XM_011534028.1:c.131G>A (SLC6A1)	XP_011532330.1:p.Arg44Gln
NM_001348250.1:c.131G>A (SLC6A1)	NP_001335179.1:p.Arg44Gln
NM_001348251.1:c.-123+83G>A (SLC6A1)	NP_001335180.1:n.-123+83G>A
NM_001348252.1:c.-165+83G>A (SLC6A1)	NP_001335181.1:n.-165+83G>A
NM_001348253.1:c.-165+83G>A (SLC6A1)	NP_001335182.1:n.-165+83G>A
XM_005265410.5:c.131G>A (SLC6A1)	XP_005265467.1:p.Arg44Gln
XM_005265411.5:c.131G>A (SLC6A1)	XP_005265468.1:p.Arg44Gln
XM_011534025.3:c.131G>A (SLC6A1)	XP_011532327.1:p.Arg44Gln
XM_011534027.3:c.131G>A (SLC6A1)	XP_011532329.1:p.Arg44Gln
XM_017007071.2:c.131G>A (SLC6A1)	XP_016862560.1:p.Arg44Gln
XM_017007072.2:c.131G>A (SLC6A1)	XP_016862561.1:p.Arg44Gln
NM_003042.4:c.131G>A (SLC6A1) MANE Select	NP_003033.3:p.Arg44Gln
NM_001348250.2:c.131G>A (SLC6A1)	NP_001335179.1:p.Arg44Gln
NM_001348251.2:c.-123+83G>A (SLC6A1)	NP_001335180.1:n.-123+83G>A
NM_001348252.2:c.-165+83G>A (SLC6A1)	NP_001335181.1:n.-165+83G>A
NM_001348253.2:c.-165+83G>A (SLC6A1)	NP_001335182.1:n.-165+83G>A