Canonical Allele Identifier: CA374947669

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630748T>G (hg19) ; chr9:g.127868469T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868469T>G , CM000671.2:g.127868469T>G	GRCh38
NC_000009.11:g.130630748T>G , CM000671.1:g.130630748T>G	GRCh37
NC_000009.10:g.129670569T>G	NCBI36
NG_011792.1:g.14275A>C
NG_011792.2:g.14275A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.868A>C
ENST00000643029.1:c.*2043A>C	ENSP00000496586.1:n.*2043A>C
ENST00000643338.1:c.*1932A>C	ENSP00000495890.1:n.*1932A>C
ENST00000644144.2:c.368A>C MANE Select	ENSP00000494600.1:p.Glu123Ala
ENST00000645007.1:c.*2292A>C	ENSP00000494773.1:n.*2292A>C
ENST00000646171.1:c.*401A>C	ENSP00000495484.1:n.*401A>C
ENST00000223836.10:c.416A>C	ENSP00000223836.10:p.Glu139Ala
ENST00000373156.5:c.368A>C	ENSP00000362249.1:p.Glu123Ala
ENST00000373176.5:c.368A>C	ENSP00000362271.1:p.Glu123Ala
ENST00000413016.5:c.190A>C
ENST00000550143.5:c.148A>C	ENSP00000449130.1:p.Arg50=
ENST00000550992.1:c.*388A>C	ENSP00000448741.1:n.*388A>C
NM_000476.2:c.368A>C	NP_000467.1:p.Glu123Ala
XM_005251786.2:c.416A>C	XP_005251843.1:p.Glu139Ala
XM_011518348.1:c.368A>C	XP_011516650.1:p.Glu123Ala
XM_011518349.1:c.188A>C	XP_011516651.1:p.Glu63Ala
NM_001318121.1:c.368A>C	NP_001305050.1:p.Glu123Ala
NM_001318122.1:c.416A>C	NP_001305051.1:p.Glu139Ala
XM_017014428.1:c.368A>C	XP_016869917.1:p.Glu123Ala
XM_024447439.1:c.347A>C	XP_024303207.1:p.Glu116Ala
XM_024447440.1:c.188A>C	XP_024303208.1:p.Glu63Ala
NM_001318122.2:c.416A>C	NP_001305051.1:p.Glu139Ala
NM_000476.3:c.368A>C MANE Select	NP_000467.1:p.Glu123Ala
NR_174625.1:n.3687A>C
NR_174626.1:n.3530A>C
NR_174627.1:n.3567A>C
NR_174628.1:n.2945A>C
NR_174629.1:n.2890A>C
NR_174630.1:n.2926A>C
NR_174631.1:n.2871A>C
NR_174632.1:n.2960A>C