Canonical Allele Identifier: CA374947263

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630686C>A (hg19) ; chr9:g.127868407C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868407C>A , CM000671.2:g.127868407C>A	GRCh38
NC_000009.11:g.130630686C>A , CM000671.1:g.130630686C>A	GRCh37
NC_000009.10:g.129670507C>A	NCBI36
NG_011792.1:g.14337G>T
NG_011792.2:g.14337G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.930G>T
ENST00000643029.1:c.*2105G>T	ENSP00000496586.1:n.*2105G>T
ENST00000643338.1:c.*1994G>T	ENSP00000495890.1:n.*1994G>T
ENST00000644144.2:c.430G>T MANE Select	ENSP00000494600.1:p.Glu144Ter
ENST00000645007.1:c.*2354G>T	ENSP00000494773.1:n.*2354G>T
ENST00000646171.1:c.*463G>T	ENSP00000495484.1:n.*463G>T
ENST00000223836.10:c.478G>T	ENSP00000223836.10:p.Glu160Ter
ENST00000373156.5:c.430G>T	ENSP00000362249.1:p.Glu144Ter
ENST00000373176.5:c.430G>T	ENSP00000362271.1:p.Glu144Ter
ENST00000413016.5:c.252G>T
ENST00000550143.5:c.210G>T	ENSP00000449130.1:n.210G>T
NM_000476.2:c.430G>T	NP_000467.1:p.Glu144Ter
XM_005251786.2:c.478G>T	XP_005251843.1:p.Glu160Ter
XM_011518348.1:c.430G>T	XP_011516650.1:p.Glu144Ter
XM_011518349.1:c.250G>T	XP_011516651.1:p.Glu84Ter
NM_001318121.1:c.430G>T	NP_001305050.1:p.Glu144Ter
NM_001318122.1:c.478G>T	NP_001305051.1:p.Glu160Ter
XM_017014428.1:c.430G>T	XP_016869917.1:p.Glu144Ter
XM_024447439.1:c.409G>T	XP_024303207.1:p.Glu137Ter
XM_024447440.1:c.250G>T	XP_024303208.1:p.Glu84Ter
NM_001318122.2:c.478G>T	NP_001305051.1:p.Glu160Ter
NM_000476.3:c.430G>T MANE Select	NP_000467.1:p.Glu144Ter
NR_174625.1:n.3749G>T
NR_174626.1:n.3592G>T
NR_174627.1:n.3629G>T
NR_174628.1:n.3007G>T
NR_174629.1:n.2952G>T
NR_174630.1:n.2988G>T
NR_174631.1:n.2933G>T
NR_174632.1:n.3022G>T