Canonical Allele Identifier: CA374946936

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630635T>A (hg19) ; chr9:g.127868356T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868356T>A , CM000671.2:g.127868356T>A	GRCh38
NC_000009.11:g.130630635T>A , CM000671.1:g.130630635T>A	GRCh37
NC_000009.10:g.129670456T>A	NCBI36
NG_011792.1:g.14388A>T
NG_011792.2:g.14388A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.981A>T
ENST00000643029.1:c.*2156A>T	ENSP00000496586.1:n.*2156A>T
ENST00000643338.1:c.*2045A>T	ENSP00000495890.1:n.*2045A>T
ENST00000644144.2:c.481A>T MANE Select	ENSP00000494600.1:p.Ile161Phe
ENST00000645007.1:c.*2405A>T	ENSP00000494773.1:n.*2405A>T
ENST00000646171.1:c.*514A>T	ENSP00000495484.1:n.*514A>T
ENST00000223836.10:c.529A>T	ENSP00000223836.10:p.Ile177Phe
ENST00000373156.5:c.481A>T	ENSP00000362249.1:p.Ile161Phe
ENST00000373176.5:c.481A>T	ENSP00000362271.1:p.Ile161Phe
ENST00000413016.5:c.303A>T
ENST00000550143.5:c.261A>T	ENSP00000449130.1:n.261A>T
NM_000476.2:c.481A>T	NP_000467.1:p.Ile161Phe
XM_005251786.2:c.529A>T	XP_005251843.1:p.Ile177Phe
XM_011518348.1:c.481A>T	XP_011516650.1:p.Ile161Phe
XM_011518349.1:c.301A>T	XP_011516651.1:p.Ile101Phe
NM_001318121.1:c.481A>T	NP_001305050.1:p.Ile161Phe
NM_001318122.1:c.529A>T	NP_001305051.1:p.Ile177Phe
XM_017014428.1:c.481A>T	XP_016869917.1:p.Ile161Phe
XM_024447439.1:c.460A>T	XP_024303207.1:p.Ile154Phe
XM_024447440.1:c.301A>T	XP_024303208.1:p.Ile101Phe
NM_001318122.2:c.529A>T	NP_001305051.1:p.Ile177Phe
NM_000476.3:c.481A>T MANE Select	NP_000467.1:p.Ile161Phe
NR_174625.1:n.3800A>T
NR_174626.1:n.3643A>T
NR_174627.1:n.3680A>T
NR_174628.1:n.3058A>T
NR_174629.1:n.3003A>T
NR_174630.1:n.3039A>T
NR_174631.1:n.2984A>T
NR_174632.1:n.3073A>T