Canonical Allele Identifier: CA467224234

Gene: AK1

Linked Data

• dbSNP Id: rs1588612194
• MyVariant Identifiers: chr9:g.130630720A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868441A>G , CM000671.2:g.127868441A>G	GRCh38
NC_000009.11:g.130630720A>G , CM000671.1:g.130630720A>G	GRCh37
NC_000009.10:g.129670541A>G	NCBI36
NG_011792.1:g.14303T>C
NG_011792.2:g.14303T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.896T>C
ENST00000643029.1:c.*2071T>C	ENSP00000496586.1:n.*2071T>C
ENST00000643338.1:c.*1960T>C	ENSP00000495890.1:n.*1960T>C
ENST00000644144.2:c.396T>C MANE Select	ENSP00000494600.1:p.Arg132=
ENST00000645007.1:c.*2320T>C	ENSP00000494773.1:n.*2320T>C
ENST00000646171.1:c.*429T>C	ENSP00000495484.1:n.*429T>C
ENST00000223836.10:c.444T>C	ENSP00000223836.10:p.Arg148=
ENST00000373156.5:c.396T>C	ENSP00000362249.1:p.Arg132=
ENST00000373176.5:c.396T>C	ENSP00000362271.1:p.Arg132=
ENST00000413016.5:c.218T>C
ENST00000550143.5:c.176T>C	ENSP00000449130.1:n.176T>C
NM_000476.2:c.396T>C	NP_000467.1:p.Arg132=
XM_005251786.2:c.444T>C	XP_005251843.1:p.Arg148=
XM_011518348.1:c.396T>C	XP_011516650.1:p.Arg132=
XM_011518349.1:c.216T>C	XP_011516651.1:p.Arg72=
NM_001318121.1:c.396T>C	NP_001305050.1:p.Arg132=
NM_001318122.1:c.444T>C	NP_001305051.1:p.Arg148=
XM_017014428.1:c.396T>C	XP_016869917.1:p.Arg132=
XM_024447439.1:c.375T>C	XP_024303207.1:p.Arg125=
XM_024447440.1:c.216T>C	XP_024303208.1:p.Arg72=
NM_001318122.2:c.444T>C	NP_001305051.1:p.Arg148=
NM_000476.3:c.396T>C MANE Select	NP_000467.1:p.Arg132=
NR_174625.1:n.3715T>C
NR_174626.1:n.3558T>C
NR_174627.1:n.3595T>C
NR_174628.1:n.2973T>C
NR_174629.1:n.2918T>C
NR_174630.1:n.2954T>C
NR_174631.1:n.2899T>C
NR_174632.1:n.2988T>C