Canonical Allele Identifier: CA374947542

Gene: AK1

Linked Data

• dbSNP Id: rs1588612224
• MyVariant Identifiers: chr9:g.130630728A>C (hg19) ; chr9:g.127868449A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868449A>C , CM000671.2:g.127868449A>C	GRCh38
NC_000009.11:g.130630728A>C , CM000671.1:g.130630728A>C	GRCh37
NC_000009.10:g.129670549A>C	NCBI36
NG_011792.1:g.14295T>G
NG_011792.2:g.14295T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.888T>G
ENST00000643029.1:c.*2063T>G	ENSP00000496586.1:n.*2063T>G
ENST00000643338.1:c.*1952T>G	ENSP00000495890.1:n.*1952T>G
ENST00000644144.2:c.388T>G MANE Select	ENSP00000494600.1:p.Leu130Val
ENST00000645007.1:c.*2312T>G	ENSP00000494773.1:n.*2312T>G
ENST00000646171.1:c.*421T>G	ENSP00000495484.1:n.*421T>G
ENST00000223836.10:c.436T>G	ENSP00000223836.10:p.Leu146Val
ENST00000373156.5:c.388T>G	ENSP00000362249.1:p.Leu130Val
ENST00000373176.5:c.388T>G	ENSP00000362271.1:p.Leu130Val
ENST00000413016.5:c.210T>G
ENST00000550143.5:c.168T>G	ENSP00000449130.1:n.168T>G
NM_000476.2:c.388T>G	NP_000467.1:p.Leu130Val
XM_005251786.2:c.436T>G	XP_005251843.1:p.Leu146Val
XM_011518348.1:c.388T>G	XP_011516650.1:p.Leu130Val
XM_011518349.1:c.208T>G	XP_011516651.1:p.Leu70Val
NM_001318121.1:c.388T>G	NP_001305050.1:p.Leu130Val
NM_001318122.1:c.436T>G	NP_001305051.1:p.Leu146Val
XM_017014428.1:c.388T>G	XP_016869917.1:p.Leu130Val
XM_024447439.1:c.367T>G	XP_024303207.1:p.Leu123Val
XM_024447440.1:c.208T>G	XP_024303208.1:p.Leu70Val
NM_001318122.2:c.436T>G	NP_001305051.1:p.Leu146Val
NM_000476.3:c.388T>G MANE Select	NP_000467.1:p.Leu130Val
NR_174625.1:n.3707T>G
NR_174626.1:n.3550T>G
NR_174627.1:n.3587T>G
NR_174628.1:n.2965T>G
NR_174629.1:n.2910T>G
NR_174630.1:n.2946T>G
NR_174631.1:n.2891T>G
NR_174632.1:n.2980T>G