Canonical Allele Identifier: CA467223470

Gene: AK1

Linked Data

• COSMIC: COSM1330719
• MyVariant Identifiers: chr9:g.130630642T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868363T>C , CM000671.2:g.127868363T>C	GRCh38
NC_000009.11:g.130630642T>C , CM000671.1:g.130630642T>C	GRCh37
NC_000009.10:g.129670463T>C	NCBI36
NG_011792.1:g.14381A>G
NG_011792.2:g.14381A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.974A>G
ENST00000643029.1:c.*2149A>G	ENSP00000496586.1:n.*2149A>G
ENST00000643338.1:c.*2038A>G	ENSP00000495890.1:n.*2038A>G
ENST00000644144.2:c.474A>G MANE Select	ENSP00000494600.1:p.Glu158=
ENST00000645007.1:c.*2398A>G	ENSP00000494773.1:n.*2398A>G
ENST00000646171.1:c.*507A>G	ENSP00000495484.1:n.*507A>G
ENST00000223836.10:c.522A>G	ENSP00000223836.10:p.Glu174=
ENST00000373156.5:c.474A>G	ENSP00000362249.1:p.Glu158=
ENST00000373176.5:c.474A>G	ENSP00000362271.1:p.Glu158=
ENST00000413016.5:c.296A>G
ENST00000550143.5:c.254A>G	ENSP00000449130.1:n.254A>G
NM_000476.2:c.474A>G	NP_000467.1:p.Glu158=
XM_005251786.2:c.522A>G	XP_005251843.1:p.Glu174=
XM_011518348.1:c.474A>G	XP_011516650.1:p.Glu158=
XM_011518349.1:c.294A>G	XP_011516651.1:p.Glu98=
NM_001318121.1:c.474A>G	NP_001305050.1:p.Glu158=
NM_001318122.1:c.522A>G	NP_001305051.1:p.Glu174=
XM_017014428.1:c.474A>G	XP_016869917.1:p.Glu158=
XM_024447439.1:c.453A>G	XP_024303207.1:p.Glu151=
XM_024447440.1:c.294A>G	XP_024303208.1:p.Glu98=
NM_001318122.2:c.522A>G	NP_001305051.1:p.Glu174=
NM_000476.3:c.474A>G MANE Select	NP_000467.1:p.Glu158=
NR_174625.1:n.3793A>G
NR_174626.1:n.3636A>G
NR_174627.1:n.3673A>G
NR_174628.1:n.3051A>G
NR_174629.1:n.2996A>G
NR_174630.1:n.3032A>G
NR_174631.1:n.2977A>G
NR_174632.1:n.3066A>G