Canonical Allele Identifier: CA374947190

Gene: AK1

Linked Data

• dbSNP Id: rs1436130834
• gnomAD v2: 9-130630673-T-A
• MyVariant Identifiers: chr9:g.130630673T>A (hg19) ; chr9:g.127868394T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868394T>A , CM000671.2:g.127868394T>A	GRCh38
NC_000009.11:g.130630673T>A , CM000671.1:g.130630673T>A	GRCh37
NC_000009.10:g.129670494T>A	NCBI36
NG_011792.1:g.14350A>T
NG_011792.2:g.14350A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.943A>T
ENST00000643029.1:c.*2118A>T	ENSP00000496586.1:n.*2118A>T
ENST00000643338.1:c.*2007A>T	ENSP00000495890.1:n.*2007A>T
ENST00000644144.2:c.443A>T MANE Select	ENSP00000494600.1:p.Lys148Met
ENST00000645007.1:c.*2367A>T	ENSP00000494773.1:n.*2367A>T
ENST00000646171.1:c.*476A>T	ENSP00000495484.1:n.*476A>T
ENST00000223836.10:c.491A>T	ENSP00000223836.10:p.Lys164Met
ENST00000373156.5:c.443A>T	ENSP00000362249.1:p.Lys148Met
ENST00000373176.5:c.443A>T	ENSP00000362271.1:p.Lys148Met
ENST00000413016.5:c.265A>T
ENST00000550143.5:c.223A>T	ENSP00000449130.1:n.223A>T
NM_000476.2:c.443A>T	NP_000467.1:p.Lys148Met
XM_005251786.2:c.491A>T	XP_005251843.1:p.Lys164Met
XM_011518348.1:c.443A>T	XP_011516650.1:p.Lys148Met
XM_011518349.1:c.263A>T	XP_011516651.1:p.Lys88Met
NM_001318121.1:c.443A>T	NP_001305050.1:p.Lys148Met
NM_001318122.1:c.491A>T	NP_001305051.1:p.Lys164Met
XM_017014428.1:c.443A>T	XP_016869917.1:p.Lys148Met
XM_024447439.1:c.422A>T	XP_024303207.1:p.Lys141Met
XM_024447440.1:c.263A>T	XP_024303208.1:p.Lys88Met
NM_001318122.2:c.491A>T	NP_001305051.1:p.Lys164Met
NM_000476.3:c.443A>T MANE Select	NP_000467.1:p.Lys148Met
NR_174625.1:n.3762A>T
NR_174626.1:n.3605A>T
NR_174627.1:n.3642A>T
NR_174628.1:n.3020A>T
NR_174629.1:n.2965A>T
NR_174630.1:n.3001A>T
NR_174631.1:n.2946A>T
NR_174632.1:n.3035A>T