Canonical Allele Identifier: CA467224644

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630780G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868501G>C , CM000671.2:g.127868501G>C	GRCh38
NC_000009.11:g.130630780G>C , CM000671.1:g.130630780G>C	GRCh37
NC_000009.10:g.129670601G>C	NCBI36
NG_011792.1:g.14243C>G
NG_011792.2:g.14243C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.836C>G
ENST00000643029.1:c.*2011C>G	ENSP00000496586.1:n.*2011C>G
ENST00000643338.1:c.*1900C>G	ENSP00000495890.1:n.*1900C>G
ENST00000644144.2:c.336C>G MANE Select	ENSP00000494600.1:p.Pro112=
ENST00000645007.1:c.*2260C>G	ENSP00000494773.1:n.*2260C>G
ENST00000646171.1:c.*369C>G	ENSP00000495484.1:n.*369C>G
ENST00000223836.10:c.384C>G	ENSP00000223836.10:p.Pro128=
ENST00000373156.5:c.336C>G	ENSP00000362249.1:p.Pro112=
ENST00000373176.5:c.336C>G	ENSP00000362271.1:p.Pro112=
ENST00000413016.5:c.158C>G
ENST00000550143.5:c.142-26C>G	ENSP00000449130.1:n.142-26C>G
ENST00000550992.1:c.*356C>G	ENSP00000448741.1:n.*356C>G
NM_000476.2:c.336C>G	NP_000467.1:p.Pro112=
XM_005251786.2:c.384C>G	XP_005251843.1:p.Pro128=
XM_011518348.1:c.336C>G	XP_011516650.1:p.Pro112=
XM_011518349.1:c.156C>G	XP_011516651.1:p.Pro52=
NM_001318121.1:c.336C>G	NP_001305050.1:p.Pro112=
NM_001318122.1:c.384C>G	NP_001305051.1:p.Pro128=
XM_017014428.1:c.336C>G	XP_016869917.1:p.Pro112=
XM_024447439.1:c.315C>G	XP_024303207.1:p.Pro105=
XM_024447440.1:c.156C>G	XP_024303208.1:p.Pro52=
NM_001318122.2:c.384C>G	NP_001305051.1:p.Pro128=
NM_000476.3:c.336C>G MANE Select	NP_000467.1:p.Pro112=
NR_174625.1:n.3655C>G
NR_174626.1:n.3524-26C>G
NR_174627.1:n.3535C>G
NR_174628.1:n.2913C>G
NR_174629.1:n.2858C>G
NR_174630.1:n.2894C>G
NR_174631.1:n.2839C>G
NR_174632.1:n.2928C>G