Canonical Allele Identifier: CA374947834

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630785G>T (hg19) ; chr9:g.127868506G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868506G>T , CM000671.2:g.127868506G>T	GRCh38
NC_000009.11:g.130630785G>T , CM000671.1:g.130630785G>T	GRCh37
NC_000009.10:g.129670606G>T	NCBI36
NG_011792.1:g.14238C>A
NG_011792.2:g.14238C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.831C>A
ENST00000643029.1:c.*2006C>A	ENSP00000496586.1:n.*2006C>A
ENST00000643338.1:c.*1895C>A	ENSP00000495890.1:n.*1895C>A
ENST00000644144.2:c.331C>A MANE Select	ENSP00000494600.1:p.Gln111Lys
ENST00000645007.1:c.*2255C>A	ENSP00000494773.1:n.*2255C>A
ENST00000646171.1:c.*364C>A	ENSP00000495484.1:n.*364C>A
ENST00000223836.10:c.379C>A	ENSP00000223836.10:p.Gln127Lys
ENST00000373156.5:c.331C>A	ENSP00000362249.1:p.Gln111Lys
ENST00000373176.5:c.331C>A	ENSP00000362271.1:p.Gln111Lys
ENST00000413016.5:c.153C>A
ENST00000550143.5:c.142-31C>A	ENSP00000449130.1:n.142-31C>A
ENST00000550992.1:c.*351C>A	ENSP00000448741.1:n.*351C>A
NM_000476.2:c.331C>A	NP_000467.1:p.Gln111Lys
XM_005251786.2:c.379C>A	XP_005251843.1:p.Gln127Lys
XM_011518348.1:c.331C>A	XP_011516650.1:p.Gln111Lys
XM_011518349.1:c.151C>A	XP_011516651.1:p.Gln51Lys
NM_001318121.1:c.331C>A	NP_001305050.1:p.Gln111Lys
NM_001318122.1:c.379C>A	NP_001305051.1:p.Gln127Lys
XM_017014428.1:c.331C>A	XP_016869917.1:p.Gln111Lys
XM_024447439.1:c.310C>A	XP_024303207.1:p.Gln104Lys
XM_024447440.1:c.151C>A	XP_024303208.1:p.Gln51Lys
NM_001318122.2:c.379C>A	NP_001305051.1:p.Gln127Lys
NM_000476.3:c.331C>A MANE Select	NP_000467.1:p.Gln111Lys
NR_174625.1:n.3650C>A
NR_174626.1:n.3524-31C>A
NR_174627.1:n.3530C>A
NR_174628.1:n.2908C>A
NR_174629.1:n.2853C>A
NR_174630.1:n.2889C>A
NR_174631.1:n.2834C>A
NR_174632.1:n.2923C>A