Canonical Allele Identifier: CA374947569

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630733C>A (hg19) ; chr9:g.127868454C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868454C>A , CM000671.2:g.127868454C>A	GRCh38
NC_000009.11:g.130630733C>A , CM000671.1:g.130630733C>A	GRCh37
NC_000009.10:g.129670554C>A	NCBI36
NG_011792.1:g.14290G>T
NG_011792.2:g.14290G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.883G>T
ENST00000643029.1:c.*2058G>T	ENSP00000496586.1:n.*2058G>T
ENST00000643338.1:c.*1947G>T	ENSP00000495890.1:n.*1947G>T
ENST00000644144.2:c.383G>T MANE Select	ENSP00000494600.1:p.Arg128Leu
ENST00000645007.1:c.*2307G>T	ENSP00000494773.1:n.*2307G>T
ENST00000646171.1:c.*416G>T	ENSP00000495484.1:n.*416G>T
ENST00000223836.10:c.431G>T	ENSP00000223836.10:p.Arg144Leu
ENST00000373156.5:c.383G>T	ENSP00000362249.1:p.Arg128Leu
ENST00000373176.5:c.383G>T	ENSP00000362271.1:p.Arg128Leu
ENST00000413016.5:c.205G>T
ENST00000550143.5:c.163G>T	ENSP00000449130.1:n.163G>T
NM_000476.2:c.383G>T	NP_000467.1:p.Arg128Leu
XM_005251786.2:c.431G>T	XP_005251843.1:p.Arg144Leu
XM_011518348.1:c.383G>T	XP_011516650.1:p.Arg128Leu
XM_011518349.1:c.203G>T	XP_011516651.1:p.Arg68Leu
NM_001318121.1:c.383G>T	NP_001305050.1:p.Arg128Leu
NM_001318122.1:c.431G>T	NP_001305051.1:p.Arg144Leu
XM_017014428.1:c.383G>T	XP_016869917.1:p.Arg128Leu
XM_024447439.1:c.362G>T	XP_024303207.1:p.Arg121Leu
XM_024447440.1:c.203G>T	XP_024303208.1:p.Arg68Leu
NM_001318122.2:c.431G>T	NP_001305051.1:p.Arg144Leu
NM_000476.3:c.383G>T MANE Select	NP_000467.1:p.Arg128Leu
NR_174625.1:n.3702G>T
NR_174626.1:n.3545G>T
NR_174627.1:n.3582G>T
NR_174628.1:n.2960G>T
NR_174629.1:n.2905G>T
NR_174630.1:n.2941G>T
NR_174631.1:n.2886G>T
NR_174632.1:n.2975G>T