Canonical Allele Identifier: CA374947500

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630722G>C (hg19) ; chr9:g.127868443G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868443G>C , CM000671.2:g.127868443G>C	GRCh38
NC_000009.11:g.130630722G>C , CM000671.1:g.130630722G>C	GRCh37
NC_000009.10:g.129670543G>C	NCBI36
NG_011792.1:g.14301C>G
NG_011792.2:g.14301C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.894C>G
ENST00000643029.1:c.*2069C>G	ENSP00000496586.1:n.*2069C>G
ENST00000643338.1:c.*1958C>G	ENSP00000495890.1:n.*1958C>G
ENST00000644144.2:c.394C>G MANE Select	ENSP00000494600.1:p.Arg132Gly
ENST00000645007.1:c.*2318C>G	ENSP00000494773.1:n.*2318C>G
ENST00000646171.1:c.*427C>G	ENSP00000495484.1:n.*427C>G
ENST00000223836.10:c.442C>G	ENSP00000223836.10:p.Arg148Gly
ENST00000373156.5:c.394C>G	ENSP00000362249.1:p.Arg132Gly
ENST00000373176.5:c.394C>G	ENSP00000362271.1:p.Arg132Gly
ENST00000413016.5:c.216C>G
ENST00000550143.5:c.174C>G	ENSP00000449130.1:n.174C>G
NM_000476.2:c.394C>G	NP_000467.1:p.Arg132Gly
XM_005251786.2:c.442C>G	XP_005251843.1:p.Arg148Gly
XM_011518348.1:c.394C>G	XP_011516650.1:p.Arg132Gly
XM_011518349.1:c.214C>G	XP_011516651.1:p.Arg72Gly
NM_001318121.1:c.394C>G	NP_001305050.1:p.Arg132Gly
NM_001318122.1:c.442C>G	NP_001305051.1:p.Arg148Gly
XM_017014428.1:c.394C>G	XP_016869917.1:p.Arg132Gly
XM_024447439.1:c.373C>G	XP_024303207.1:p.Arg125Gly
XM_024447440.1:c.214C>G	XP_024303208.1:p.Arg72Gly
NM_001318122.2:c.442C>G	NP_001305051.1:p.Arg148Gly
NM_000476.3:c.394C>G MANE Select	NP_000467.1:p.Arg132Gly
NR_174625.1:n.3713C>G
NR_174626.1:n.3556C>G
NR_174627.1:n.3593C>G
NR_174628.1:n.2971C>G
NR_174629.1:n.2916C>G
NR_174630.1:n.2952C>G
NR_174631.1:n.2897C>G
NR_174632.1:n.2986C>G