Canonical Allele Identifier: CA374947740

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630766T>A (hg19) ; chr9:g.127868487T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868487T>A , CM000671.2:g.127868487T>A	GRCh38
NC_000009.11:g.130630766T>A , CM000671.1:g.130630766T>A	GRCh37
NC_000009.10:g.129670587T>A	NCBI36
NG_011792.1:g.14257A>T
NG_011792.2:g.14257A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.850A>T
ENST00000643029.1:c.*2025A>T	ENSP00000496586.1:n.*2025A>T
ENST00000643338.1:c.*1914A>T	ENSP00000495890.1:n.*1914A>T
ENST00000644144.2:c.350A>T MANE Select	ENSP00000494600.1:p.Tyr117Phe
ENST00000645007.1:c.*2274A>T	ENSP00000494773.1:n.*2274A>T
ENST00000646171.1:c.*383A>T	ENSP00000495484.1:n.*383A>T
ENST00000223836.10:c.398A>T	ENSP00000223836.10:p.Tyr133Phe
ENST00000373156.5:c.350A>T	ENSP00000362249.1:p.Tyr117Phe
ENST00000373176.5:c.350A>T	ENSP00000362271.1:p.Tyr117Phe
ENST00000413016.5:c.172A>T
ENST00000550143.5:c.142-12A>T	ENSP00000449130.1:n.142-12A>T
ENST00000550992.1:c.*370A>T	ENSP00000448741.1:n.*370A>T
NM_000476.2:c.350A>T	NP_000467.1:p.Tyr117Phe
XM_005251786.2:c.398A>T	XP_005251843.1:p.Tyr133Phe
XM_011518348.1:c.350A>T	XP_011516650.1:p.Tyr117Phe
XM_011518349.1:c.170A>T	XP_011516651.1:p.Tyr57Phe
NM_001318121.1:c.350A>T	NP_001305050.1:p.Tyr117Phe
NM_001318122.1:c.398A>T	NP_001305051.1:p.Tyr133Phe
XM_017014428.1:c.350A>T	XP_016869917.1:p.Tyr117Phe
XM_024447439.1:c.329A>T	XP_024303207.1:p.Tyr110Phe
XM_024447440.1:c.170A>T	XP_024303208.1:p.Tyr57Phe
NM_001318122.2:c.398A>T	NP_001305051.1:p.Tyr133Phe
NM_000476.3:c.350A>T MANE Select	NP_000467.1:p.Tyr117Phe
NR_174625.1:n.3669A>T
NR_174626.1:n.3524-12A>T
NR_174627.1:n.3549A>T
NR_174628.1:n.2927A>T
NR_174629.1:n.2872A>T
NR_174630.1:n.2908A>T
NR_174631.1:n.2853A>T
NR_174632.1:n.2942A>T