Canonical Allele Identifier: CA374947220

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630677T>A (hg19) ; chr9:g.127868398T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868398T>A , CM000671.2:g.127868398T>A	GRCh38
NC_000009.11:g.130630677T>A , CM000671.1:g.130630677T>A	GRCh37
NC_000009.10:g.129670498T>A	NCBI36
NG_011792.1:g.14346A>T
NG_011792.2:g.14346A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.939A>T
ENST00000643029.1:c.*2114A>T	ENSP00000496586.1:n.*2114A>T
ENST00000643338.1:c.*2003A>T	ENSP00000495890.1:n.*2003A>T
ENST00000644144.2:c.439A>T MANE Select	ENSP00000494600.1:p.Lys147Ter
ENST00000645007.1:c.*2363A>T	ENSP00000494773.1:n.*2363A>T
ENST00000646171.1:c.*472A>T	ENSP00000495484.1:n.*472A>T
ENST00000223836.10:c.487A>T	ENSP00000223836.10:p.Lys163Ter
ENST00000373156.5:c.439A>T	ENSP00000362249.1:p.Lys147Ter
ENST00000373176.5:c.439A>T	ENSP00000362271.1:p.Lys147Ter
ENST00000413016.5:c.261A>T
ENST00000550143.5:c.219A>T	ENSP00000449130.1:n.219A>T
NM_000476.2:c.439A>T	NP_000467.1:p.Lys147Ter
XM_005251786.2:c.487A>T	XP_005251843.1:p.Lys163Ter
XM_011518348.1:c.439A>T	XP_011516650.1:p.Lys147Ter
XM_011518349.1:c.259A>T	XP_011516651.1:p.Lys87Ter
NM_001318121.1:c.439A>T	NP_001305050.1:p.Lys147Ter
NM_001318122.1:c.487A>T	NP_001305051.1:p.Lys163Ter
XM_017014428.1:c.439A>T	XP_016869917.1:p.Lys147Ter
XM_024447439.1:c.418A>T	XP_024303207.1:p.Lys140Ter
XM_024447440.1:c.259A>T	XP_024303208.1:p.Lys87Ter
NM_001318122.2:c.487A>T	NP_001305051.1:p.Lys163Ter
NM_000476.3:c.439A>T MANE Select	NP_000467.1:p.Lys147Ter
NR_174625.1:n.3758A>T
NR_174626.1:n.3601A>T
NR_174627.1:n.3638A>T
NR_174628.1:n.3016A>T
NR_174629.1:n.2961A>T
NR_174630.1:n.2997A>T
NR_174631.1:n.2942A>T
NR_174632.1:n.3031A>T