Canonical Allele Identifier: CA374947729

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630764C>G (hg19) ; chr9:g.127868485C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868485C>G , CM000671.2:g.127868485C>G	GRCh38
NC_000009.11:g.130630764C>G , CM000671.1:g.130630764C>G	GRCh37
NC_000009.10:g.129670585C>G	NCBI36
NG_011792.1:g.14259G>C
NG_011792.2:g.14259G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.852G>C
ENST00000643029.1:c.*2027G>C	ENSP00000496586.1:n.*2027G>C
ENST00000643338.1:c.*1916G>C	ENSP00000495890.1:n.*1916G>C
ENST00000644144.2:c.352G>C MANE Select	ENSP00000494600.1:p.Val118Leu
ENST00000645007.1:c.*2276G>C	ENSP00000494773.1:n.*2276G>C
ENST00000646171.1:c.*385G>C	ENSP00000495484.1:n.*385G>C
ENST00000223836.10:c.400G>C	ENSP00000223836.10:p.Val134Leu
ENST00000373156.5:c.352G>C	ENSP00000362249.1:p.Val118Leu
ENST00000373176.5:c.352G>C	ENSP00000362271.1:p.Val118Leu
ENST00000413016.5:c.174G>C
ENST00000550143.5:c.142-10G>C	ENSP00000449130.1:n.142-10G>C
ENST00000550992.1:c.*372G>C	ENSP00000448741.1:n.*372G>C
NM_000476.2:c.352G>C	NP_000467.1:p.Val118Leu
XM_005251786.2:c.400G>C	XP_005251843.1:p.Val134Leu
XM_011518348.1:c.352G>C	XP_011516650.1:p.Val118Leu
XM_011518349.1:c.172G>C	XP_011516651.1:p.Val58Leu
NM_001318121.1:c.352G>C	NP_001305050.1:p.Val118Leu
NM_001318122.1:c.400G>C	NP_001305051.1:p.Val134Leu
XM_017014428.1:c.352G>C	XP_016869917.1:p.Val118Leu
XM_024447439.1:c.331G>C	XP_024303207.1:p.Val111Leu
XM_024447440.1:c.172G>C	XP_024303208.1:p.Val58Leu
NM_001318122.2:c.400G>C	NP_001305051.1:p.Val134Leu
NM_000476.3:c.352G>C MANE Select	NP_000467.1:p.Val118Leu
NR_174625.1:n.3671G>C
NR_174626.1:n.3524-10G>C
NR_174627.1:n.3551G>C
NR_174628.1:n.2929G>C
NR_174629.1:n.2874G>C
NR_174630.1:n.2910G>C
NR_174631.1:n.2855G>C
NR_174632.1:n.2944G>C