Canonical Allele Identifier: CA2254941

Gene: SLC6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.11022370A>G , CM000665.2:g.11022370A>G	GRCh38
NC_000003.11:g.11064056A>G , CM000665.1:g.11064056A>G	GRCh37
NC_000003.10:g.11039056A>G	NCBI36
NG_053003.1:g.34642A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698198.1:c.688A>G	ENSP00000513602.1:p.Lys230Glu
ENST00000287766.10:c.616A>G MANE Select	ENSP00000287766.4:p.Lys206Glu
ENST00000425938.6:c.256A>G	ENSP00000411689.2:p.Lys86Glu
ENST00000460480.2:c.*189A>G	ENSP00000494289.1:n.*189A>G
ENST00000642201.1:c.616A>G	ENSP00000494778.1:p.Lys206Glu
ENST00000642515.1:c.616A>G	ENSP00000496348.1:p.Lys206Glu
ENST00000642639.1:c.616A>G	ENSP00000494191.1:p.Lys206Glu
ENST00000642735.1:c.616A>G	ENSP00000494050.1:p.Lys206Glu
ENST00000642766.1:n.1251A>G
ENST00000642767.1:c.616A>G	ENSP00000494346.1:p.Lys206Glu
ENST00000642820.1:c.616A>G	ENSP00000495900.1:p.Lys206Glu
ENST00000642831.1:n.1007A>G
ENST00000643326.1:c.338A>G	ENSP00000496465.1:p.Ter113=
ENST00000643396.1:c.616A>G	ENSP00000494136.1:p.Lys206Glu
ENST00000643498.1:c.616A>G	ENSP00000494997.1:p.Lys206Glu
ENST00000644314.1:c.256A>G	ENSP00000493813.1:p.Lys86Glu
ENST00000644803.1:c.616A>G	ENSP00000494469.1:p.Lys206Glu
ENST00000645029.1:c.616A>G	ENSP00000496171.1:p.Lys206Glu
ENST00000645054.1:c.616A>G	ENSP00000495751.1:p.Lys206Glu
ENST00000645281.1:c.82A>G	ENSP00000493746.1:p.Lys28Glu
ENST00000645575.1:c.515A>G	ENSP00000493666.1:p.Ter172=
ENST00000645592.1:c.616A>G	ENSP00000496619.1:p.Lys206Glu
ENST00000645598.1:n.448A>G
ENST00000645776.1:c.82A>G	ENSP00000495375.1:p.Lys28Glu
ENST00000645974.1:c.616A>G	ENSP00000496390.1:p.Lys206Glu
ENST00000645985.1:c.425A>G
ENST00000646022.1:c.616A>G	ENSP00000494134.1:p.Lys206Glu
ENST00000646060.1:c.616A>G	ENSP00000496302.1:p.Lys206Glu
ENST00000646072.1:c.82A>G	ENSP00000494002.1:p.Lys28Glu
ENST00000646487.1:c.193A>G	ENSP00000496768.1:p.Lys65Glu
ENST00000646570.1:c.616A>G	ENSP00000496064.1:p.Lys206Glu
ENST00000646702.1:c.616A>G	ENSP00000496697.1:p.Lys206Glu
ENST00000646886.1:n.2984A>G
ENST00000646924.1:c.616A>G	ENSP00000493591.1:p.Lys206Glu
ENST00000647194.1:c.616A>G	ENSP00000496238.1:p.Lys206Glu
ENST00000647384.1:c.616A>G	ENSP00000493779.1:p.Lys206Glu
ENST00000287766.8:c.616A>G	ENSP00000287766.4:p.Lys206Glu
ENST00000460480.1:n.390A>G
NM_003042.3:c.616A>G	NP_003033.3:p.Lys206Glu
XM_005265410.3:c.616A>G	XP_005265467.1:p.Lys206Glu
XM_005265411.3:c.616A>G	XP_005265468.1:p.Lys206Glu
XM_006713306.2:c.616A>G	XP_006713369.1:p.Lys206Glu
XM_011534025.1:c.616A>G	XP_011532327.1:p.Lys206Glu
XM_011534026.1:c.616A>G	XP_011532328.1:p.Lys206Glu
XM_011534027.1:c.616A>G	XP_011532329.1:p.Lys206Glu
XM_011534028.1:c.616A>G	XP_011532330.1:p.Lys206Glu
NM_001348250.1:c.616A>G	NP_001335179.1:p.Lys206Glu
NM_001348251.1:c.256A>G	NP_001335180.1:p.Lys86Glu
NM_001348252.1:c.82A>G	NP_001335181.1:p.Lys28Glu
NM_001348253.1:c.82A>G	NP_001335182.1:p.Lys28Glu
XM_005265410.5:c.616A>G	XP_005265467.1:p.Lys206Glu
XM_005265411.5:c.616A>G	XP_005265468.1:p.Lys206Glu
XM_011534025.3:c.616A>G	XP_011532327.1:p.Lys206Glu
XM_011534027.3:c.616A>G	XP_011532329.1:p.Lys206Glu
XM_017007071.2:c.616A>G	XP_016862560.1:p.Lys206Glu
XM_017007072.2:c.616A>G	XP_016862561.1:p.Lys206Glu
NM_003042.4:c.616A>G MANE Select	NP_003033.3:p.Lys206Glu
NM_001348250.2:c.616A>G	NP_001335179.1:p.Lys206Glu
NM_001348251.2:c.256A>G	NP_001335180.1:p.Lys86Glu
NM_001348252.2:c.82A>G	NP_001335181.1:p.Lys28Glu
NM_001348253.2:c.82A>G	NP_001335182.1:p.Lys28Glu