Canonical Allele Identifier: CA374947653

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630743T>G (hg19) ; chr9:g.127868464T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868464T>G , CM000671.2:g.127868464T>G	GRCh38
NC_000009.11:g.130630743T>G , CM000671.1:g.130630743T>G	GRCh37
NC_000009.10:g.129670564T>G	NCBI36
NG_011792.1:g.14280A>C
NG_011792.2:g.14280A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.873A>C
ENST00000643029.1:c.*2048A>C	ENSP00000496586.1:n.*2048A>C
ENST00000643338.1:c.*1937A>C	ENSP00000495890.1:n.*1937A>C
ENST00000644144.2:c.373A>C MANE Select	ENSP00000494600.1:p.Met125Leu
ENST00000645007.1:c.*2297A>C	ENSP00000494773.1:n.*2297A>C
ENST00000646171.1:c.*406A>C	ENSP00000495484.1:n.*406A>C
ENST00000223836.10:c.421A>C	ENSP00000223836.10:p.Met141Leu
ENST00000373156.5:c.373A>C	ENSP00000362249.1:p.Met125Leu
ENST00000373176.5:c.373A>C	ENSP00000362271.1:p.Met125Leu
ENST00000413016.5:c.195A>C
ENST00000550143.5:c.153A>C	ENSP00000449130.1:p.Pro51=
ENST00000550992.1:c.*393A>C	ENSP00000448741.1:n.*393A>C
NM_000476.2:c.373A>C	NP_000467.1:p.Met125Leu
XM_005251786.2:c.421A>C	XP_005251843.1:p.Met141Leu
XM_011518348.1:c.373A>C	XP_011516650.1:p.Met125Leu
XM_011518349.1:c.193A>C	XP_011516651.1:p.Met65Leu
NM_001318121.1:c.373A>C	NP_001305050.1:p.Met125Leu
NM_001318122.1:c.421A>C	NP_001305051.1:p.Met141Leu
XM_017014428.1:c.373A>C	XP_016869917.1:p.Met125Leu
XM_024447439.1:c.352A>C	XP_024303207.1:p.Met118Leu
XM_024447440.1:c.193A>C	XP_024303208.1:p.Met65Leu
NM_001318122.2:c.421A>C	NP_001305051.1:p.Met141Leu
NM_000476.3:c.373A>C MANE Select	NP_000467.1:p.Met125Leu
NR_174625.1:n.3692A>C
NR_174626.1:n.3535A>C
NR_174627.1:n.3572A>C
NR_174628.1:n.2950A>C
NR_174629.1:n.2895A>C
NR_174630.1:n.2931A>C
NR_174631.1:n.2876A>C
NR_174632.1:n.2965A>C