Canonical Allele Identifier: CA374947040

Gene: AK1

Linked Data

• gnomAD v4: 9-127868373-T-A
• MyVariant Identifiers: chr9:g.130630652T>A (hg19) ; chr9:g.127868373T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868373T>A , CM000671.2:g.127868373T>A	GRCh38
NC_000009.11:g.130630652T>A , CM000671.1:g.130630652T>A	GRCh37
NC_000009.10:g.129670473T>A	NCBI36
NG_011792.1:g.14371A>T
NG_011792.2:g.14371A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.964A>T
ENST00000643029.1:c.*2139A>T	ENSP00000496586.1:n.*2139A>T
ENST00000643338.1:c.*2028A>T	ENSP00000495890.1:n.*2028A>T
ENST00000644144.2:c.464A>T MANE Select	ENSP00000494600.1:p.Lys155Met
ENST00000645007.1:c.*2388A>T	ENSP00000494773.1:n.*2388A>T
ENST00000646171.1:c.*497A>T	ENSP00000495484.1:n.*497A>T
ENST00000223836.10:c.512A>T	ENSP00000223836.10:p.Lys171Met
ENST00000373156.5:c.464A>T	ENSP00000362249.1:p.Lys155Met
ENST00000373176.5:c.464A>T	ENSP00000362271.1:p.Lys155Met
ENST00000413016.5:c.286A>T
ENST00000550143.5:c.244A>T	ENSP00000449130.1:n.244A>T
NM_000476.2:c.464A>T	NP_000467.1:p.Lys155Met
XM_005251786.2:c.512A>T	XP_005251843.1:p.Lys171Met
XM_011518348.1:c.464A>T	XP_011516650.1:p.Lys155Met
XM_011518349.1:c.284A>T	XP_011516651.1:p.Lys95Met
NM_001318121.1:c.464A>T	NP_001305050.1:p.Lys155Met
NM_001318122.1:c.512A>T	NP_001305051.1:p.Lys171Met
XM_017014428.1:c.464A>T	XP_016869917.1:p.Lys155Met
XM_024447439.1:c.443A>T	XP_024303207.1:p.Lys148Met
XM_024447440.1:c.284A>T	XP_024303208.1:p.Lys95Met
NM_001318122.2:c.512A>T	NP_001305051.1:p.Lys171Met
NM_000476.3:c.464A>T MANE Select	NP_000467.1:p.Lys155Met
NR_174625.1:n.3783A>T
NR_174626.1:n.3626A>T
NR_174627.1:n.3663A>T
NR_174628.1:n.3041A>T
NR_174629.1:n.2986A>T
NR_174630.1:n.3022A>T
NR_174631.1:n.2967A>T
NR_174632.1:n.3056A>T