Canonical Allele Identifier: CA374947631

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630741C>A (hg19) ; chr9:g.127868462C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868462C>A , CM000671.2:g.127868462C>A	GRCh38
NC_000009.11:g.130630741C>A , CM000671.1:g.130630741C>A	GRCh37
NC_000009.10:g.129670562C>A	NCBI36
NG_011792.1:g.14282G>T
NG_011792.2:g.14282G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.875G>T
ENST00000643029.1:c.*2050G>T	ENSP00000496586.1:n.*2050G>T
ENST00000643338.1:c.*1939G>T	ENSP00000495890.1:n.*1939G>T
ENST00000644144.2:c.375G>T MANE Select	ENSP00000494600.1:p.Met125Ile
ENST00000645007.1:c.*2299G>T	ENSP00000494773.1:n.*2299G>T
ENST00000646171.1:c.*408G>T	ENSP00000495484.1:n.*408G>T
ENST00000223836.10:c.423G>T	ENSP00000223836.10:p.Met141Ile
ENST00000373156.5:c.375G>T	ENSP00000362249.1:p.Met125Ile
ENST00000373176.5:c.375G>T	ENSP00000362271.1:p.Met125Ile
ENST00000413016.5:c.197G>T
ENST00000550143.5:c.155G>T	ENSP00000449130.1:p.Ter52Leu
NM_000476.2:c.375G>T	NP_000467.1:p.Met125Ile
XM_005251786.2:c.423G>T	XP_005251843.1:p.Met141Ile
XM_011518348.1:c.375G>T	XP_011516650.1:p.Met125Ile
XM_011518349.1:c.195G>T	XP_011516651.1:p.Met65Ile
NM_001318121.1:c.375G>T	NP_001305050.1:p.Met125Ile
NM_001318122.1:c.423G>T	NP_001305051.1:p.Met141Ile
XM_017014428.1:c.375G>T	XP_016869917.1:p.Met125Ile
XM_024447439.1:c.354G>T	XP_024303207.1:p.Met118Ile
XM_024447440.1:c.195G>T	XP_024303208.1:p.Met65Ile
NM_001318122.2:c.423G>T	NP_001305051.1:p.Met141Ile
NM_000476.3:c.375G>T MANE Select	NP_000467.1:p.Met125Ile
NR_174625.1:n.3694G>T
NR_174626.1:n.3537G>T
NR_174627.1:n.3574G>T
NR_174628.1:n.2952G>T
NR_174629.1:n.2897G>T
NR_174630.1:n.2933G>T
NR_174631.1:n.2878G>T
NR_174632.1:n.2967G>T