Canonical Allele Identifier: CA432446672

Gene: SLC6A1

Linked Data

• ClinVar Variation Id: 1533498
• ClinVar RCV Id: RCV003773566
• dbSNP Id: rs2124936955
• gnomAD v4: 3-11031248-C-T
• MyVariant Identifiers: chr3:g.11072934C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.11031248C>T , CM000665.2:g.11031248C>T	GRCh38
NC_000003.11:g.11072934C>T , CM000665.1:g.11072934C>T	GRCh37
NC_000003.10:g.11047934C>T	NCBI36
NG_053003.1:g.43520C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698198.1:c.1467C>T	ENSP00000513602.1:p.Phe489=
ENST00000287766.10:c.1395C>T MANE Select	ENSP00000287766.4:p.Phe465=
ENST00000642201.1:c.1395C>T	ENSP00000494778.1:p.Phe465=
ENST00000642515.1:c.1395C>T	ENSP00000496348.1:p.Phe465=
ENST00000642639.1:c.1395C>T	ENSP00000494191.1:p.Phe465=
ENST00000642735.1:c.1395C>T	ENSP00000494050.1:p.Phe465=
ENST00000642767.1:c.1395C>T	ENSP00000494346.1:p.Phe465=
ENST00000642820.1:c.1395C>T	ENSP00000495900.1:p.Phe465=
ENST00000643396.1:c.1395C>T	ENSP00000494136.1:p.Phe465=
ENST00000643498.1:c.1395C>T	ENSP00000494997.1:p.Phe465=
ENST00000644314.1:c.1035C>T	ENSP00000493813.1:p.Phe345=
ENST00000644803.1:c.1422C>T	ENSP00000494469.1:p.Phe474=
ENST00000645029.1:c.1395C>T	ENSP00000496171.1:p.Phe465=
ENST00000645054.1:c.1395C>T	ENSP00000495751.1:p.Phe465=
ENST00000645281.1:c.861C>T	ENSP00000493746.1:p.Phe287=
ENST00000645575.1:c.*778C>T	ENSP00000493666.1:n.*778C>T
ENST00000645592.1:c.1395C>T	ENSP00000496619.1:p.Phe465=
ENST00000645776.1:c.861C>T	ENSP00000495375.1:p.Phe287=
ENST00000645974.1:c.1395C>T	ENSP00000496390.1:p.Phe465=
ENST00000645985.1:c.1189C>T
ENST00000646022.1:c.1395C>T	ENSP00000494134.1:p.Phe465=
ENST00000646060.1:c.1395C>T	ENSP00000496302.1:p.Phe465=
ENST00000646072.1:c.861C>T	ENSP00000494002.1:p.Phe287=
ENST00000646487.1:c.972C>T	ENSP00000496768.1:p.Phe324=
ENST00000646570.1:c.1395C>T	ENSP00000496064.1:p.Phe465=
ENST00000646702.1:c.1395C>T	ENSP00000496697.1:p.Phe465=
ENST00000646836.1:n.448C>T
ENST00000646886.1:n.3763C>T
ENST00000646924.1:c.1395C>T	ENSP00000493591.1:p.Phe465=
ENST00000647194.1:c.1395C>T	ENSP00000496238.1:p.Phe465=
ENST00000647384.1:c.1078+4889C>T	ENSP00000493779.1:n.1078+4889C>T
ENST00000287766.8:c.1395C>T	ENSP00000287766.4:p.Phe465=
NM_003042.3:c.1395C>T	NP_003033.3:p.Phe465=
XM_005265410.3:c.1395C>T	XP_005265467.1:p.Phe465=
XM_005265411.3:c.1395C>T	XP_005265468.1:p.Phe465=
XM_006713306.2:c.1395C>T	XP_006713369.1:p.Phe465=
XM_011534025.1:c.1395C>T	XP_011532327.1:p.Phe465=
XM_011534026.1:c.1395C>T	XP_011532328.1:p.Phe465=
XM_011534027.1:c.1395C>T	XP_011532329.1:p.Phe465=
XM_011534028.1:c.1395C>T	XP_011532330.1:p.Phe465=
NM_001348250.1:c.1395C>T	NP_001335179.1:p.Phe465=
NM_001348251.1:c.1035C>T	NP_001335180.1:p.Phe345=
NM_001348252.1:c.861C>T	NP_001335181.1:p.Phe287=
NM_001348253.1:c.861C>T	NP_001335182.1:p.Phe287=
XM_005265410.5:c.1395C>T	XP_005265467.1:p.Phe465=
XM_005265411.5:c.1395C>T	XP_005265468.1:p.Phe465=
XM_011534025.3:c.1395C>T	XP_011532327.1:p.Phe465=
XM_011534027.3:c.1395C>T	XP_011532329.1:p.Phe465=
XM_017007071.2:c.1395C>T	XP_016862560.1:p.Phe465=
XM_017007072.2:c.1395C>T	XP_016862561.1:p.Phe465=
NM_003042.4:c.1395C>T MANE Select	NP_003033.3:p.Phe465=
NM_001348250.2:c.1395C>T	NP_001335179.1:p.Phe465=
NM_001348251.2:c.1035C>T	NP_001335180.1:p.Phe345=
NM_001348252.2:c.861C>T	NP_001335181.1:p.Phe287=
NM_001348253.2:c.861C>T	NP_001335182.1:p.Phe287=