Canonical Allele Identifier: CA128012

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127871828G>A , CM000671.2:g.127871828G>A	GRCh38
NC_000009.11:g.130634107G>A , CM000671.1:g.130634107G>A	GRCh37
NC_000009.10:g.129673928G>A	NCBI36
NG_011792.1:g.10916C>T
NG_011792.2:g.10916C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000476.3:c.319C>T MANE Select	NP_000467.1:p.Arg107Ter
ENST00000644144.2:c.319C>T MANE Select	ENSP00000494600.1:p.Arg107Ter
NM_000476.2:c.319C>T	NP_000467.1:p.Arg107Ter
NM_001318121.1:c.319C>T	NP_001305050.1:p.Arg107Ter
NM_001318122.1:c.367C>T	NP_001305051.1:p.Arg123Ter
NM_001318122.2:c.367C>T	NP_001305051.1:p.Arg123Ter
NR_174625.1:n.3638C>T
NR_174626.1:n.3518C>T
NR_174627.1:n.3518C>T
NR_174628.1:n.2896C>T
NR_174629.1:n.2841C>T
NR_174630.1:n.2877C>T
NR_174631.1:n.2822C>T
NR_174632.1:n.2911C>T
ENST00000223836.10:c.367C>T	ENSP00000223836.10:p.Arg123Ter
ENST00000373156.5:c.319C>T	ENSP00000362249.1:p.Arg107Ter
ENST00000373176.5:c.319C>T	ENSP00000362271.1:p.Arg107Ter
ENST00000413016.5:c.141C>T
ENST00000476274.7:n.819C>T
ENST00000550143.5:c.136C>T	ENSP00000449130.1:p.Arg46Ter
ENST00000550992.1:c.*339C>T	ENSP00000448741.1:n.*339C>T
ENST00000643029.1:c.*1994C>T	ENSP00000496586.1:n.*1994C>T
ENST00000643338.1:c.*1883C>T	ENSP00000495890.1:n.*1883C>T
ENST00000645007.1:c.*2243C>T	ENSP00000494773.1:n.*2243C>T
ENST00000646171.1:c.*352C>T	ENSP00000495484.1:n.*352C>T
XM_005251786.2:c.367C>T	XP_005251843.1:p.Arg123Ter
XM_011518348.1:c.319C>T	XP_011516650.1:p.Arg107Ter
XM_011518349.1:c.139C>T	XP_011516651.1:p.Arg47Ter
XM_017014428.1:c.319C>T	XP_016869917.1:p.Arg107Ter
XM_024447439.1:c.298C>T	XP_024303207.1:p.Arg100Ter
XM_024447440.1:c.139C>T	XP_024303208.1:p.Arg47Ter