Canonical Allele Identifier: CA374949954

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127871846G>T , CM000671.2:g.127871846G>T	GRCh38
NC_000009.11:g.130634125G>T , CM000671.1:g.130634125G>T	GRCh37
NC_000009.10:g.129673946G>T	NCBI36
NG_011792.1:g.10898C>A
NG_011792.2:g.10898C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000476.3:c.301C>A MANE Select	NP_000467.1:p.Gln101Lys
ENST00000644144.2:c.301C>A MANE Select	ENSP00000494600.1:p.Gln101Lys
NM_000476.2:c.301C>A	NP_000467.1:p.Gln101Lys
NM_001318121.1:c.301C>A	NP_001305050.1:p.Gln101Lys
NM_001318122.1:c.349C>A	NP_001305051.1:p.Gln117Lys
NM_001318122.2:c.349C>A	NP_001305051.1:p.Gln117Lys
NR_174625.1:n.3620C>A
NR_174626.1:n.3500C>A
NR_174627.1:n.3500C>A
NR_174628.1:n.2878C>A
NR_174629.1:n.2823C>A
NR_174630.1:n.2859C>A
NR_174631.1:n.2804C>A
NR_174632.1:n.2893C>A
ENST00000223836.10:c.349C>A	ENSP00000223836.10:p.Gln117Lys
ENST00000373156.5:c.301C>A	ENSP00000362249.1:p.Gln101Lys
ENST00000373176.5:c.301C>A	ENSP00000362271.1:p.Gln101Lys
ENST00000413016.5:c.123C>A
ENST00000476274.7:n.801C>A
ENST00000550143.5:c.118C>A	ENSP00000449130.1:p.Gln40Lys
ENST00000550992.1:c.*321C>A	ENSP00000448741.1:n.*321C>A
ENST00000643029.1:c.*1976C>A	ENSP00000496586.1:n.*1976C>A
ENST00000643338.1:c.*1865C>A	ENSP00000495890.1:n.*1865C>A
ENST00000645007.1:c.*2225C>A	ENSP00000494773.1:n.*2225C>A
ENST00000646171.1:c.*334C>A	ENSP00000495484.1:n.*334C>A
XM_005251786.2:c.349C>A	XP_005251843.1:p.Gln117Lys
XM_011518348.1:c.301C>A	XP_011516650.1:p.Gln101Lys
XM_011518349.1:c.121C>A	XP_011516651.1:p.Gln41Lys
XM_017014428.1:c.301C>A	XP_016869917.1:p.Gln101Lys
XM_024447439.1:c.280C>A	XP_024303207.1:p.Gln94Lys
XM_024447440.1:c.121C>A	XP_024303208.1:p.Gln41Lys