Canonical Allele Identifier: CA467223614

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630672C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868393C>T , CM000671.2:g.127868393C>T	GRCh38
NC_000009.11:g.130630672C>T , CM000671.1:g.130630672C>T	GRCh37
NC_000009.10:g.129670493C>T	NCBI36
NG_011792.1:g.14351G>A
NG_011792.2:g.14351G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.944G>A
ENST00000643029.1:c.*2119G>A	ENSP00000496586.1:n.*2119G>A
ENST00000643338.1:c.*2008G>A	ENSP00000495890.1:n.*2008G>A
ENST00000644144.2:c.444G>A MANE Select	ENSP00000494600.1:p.Lys148=
ENST00000645007.1:c.*2368G>A	ENSP00000494773.1:n.*2368G>A
ENST00000646171.1:c.*477G>A	ENSP00000495484.1:n.*477G>A
ENST00000223836.10:c.492G>A	ENSP00000223836.10:p.Lys164=
ENST00000373156.5:c.444G>A	ENSP00000362249.1:p.Lys148=
ENST00000373176.5:c.444G>A	ENSP00000362271.1:p.Lys148=
ENST00000413016.5:c.266G>A
ENST00000550143.5:c.224G>A	ENSP00000449130.1:n.224G>A
NM_000476.2:c.444G>A	NP_000467.1:p.Lys148=
XM_005251786.2:c.492G>A	XP_005251843.1:p.Lys164=
XM_011518348.1:c.444G>A	XP_011516650.1:p.Lys148=
XM_011518349.1:c.264G>A	XP_011516651.1:p.Lys88=
NM_001318121.1:c.444G>A	NP_001305050.1:p.Lys148=
NM_001318122.1:c.492G>A	NP_001305051.1:p.Lys164=
XM_017014428.1:c.444G>A	XP_016869917.1:p.Lys148=
XM_024447439.1:c.423G>A	XP_024303207.1:p.Lys141=
XM_024447440.1:c.264G>A	XP_024303208.1:p.Lys88=
NM_001318122.2:c.492G>A	NP_001305051.1:p.Lys164=
NM_000476.3:c.444G>A MANE Select	NP_000467.1:p.Lys148=
NR_174625.1:n.3763G>A
NR_174626.1:n.3606G>A
NR_174627.1:n.3643G>A
NR_174628.1:n.3021G>A
NR_174629.1:n.2966G>A
NR_174630.1:n.3002G>A
NR_174631.1:n.2947G>A
NR_174632.1:n.3036G>A