Canonical Allele Identifier: CA1880009396

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868497G= , CM000671.2:g.127868497G=	GRCh38
NC_000009.11:g.130630776G= , CM000671.1:g.130630776G=	GRCh37
NC_000009.10:g.129670597G=	NCBI36
NG_011792.1:g.14247C=
NG_011792.2:g.14247C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.840C=
ENST00000643029.1:c.*2015C=	ENSP00000496586.1:n.*2015C=
ENST00000643338.1:c.*1904C=	ENSP00000495890.1:n.*1904C=
ENST00000644144.2:c.340C= MANE Select	ENSP00000494600.1:p.Leu114=
ENST00000645007.1:c.*2264C=	ENSP00000494773.1:n.*2264C=
ENST00000646171.1:c.*373C=	ENSP00000495484.1:n.*373C=
ENST00000223836.10:c.388C=	ENSP00000223836.10:p.Leu130=
ENST00000373156.5:c.340C=	ENSP00000362249.1:p.Leu114=
ENST00000373176.5:c.340C=	ENSP00000362271.1:p.Leu114=
ENST00000413016.5:c.162C=
ENST00000550143.5:c.142-22C=	ENSP00000449130.1:n.142-22C=
ENST00000550992.1:c.*360C=	ENSP00000448741.1:n.*360C=
NM_000476.2:c.340C=	NP_000467.1:p.Leu114=
XM_005251786.2:c.388C=	XP_005251843.1:p.Leu130=
XM_011518348.1:c.340C=	XP_011516650.1:p.Leu114=
XM_011518349.1:c.160C=	XP_011516651.1:p.Leu54=
NM_001318121.1:c.340C=	NP_001305050.1:p.Leu114=
NM_001318122.1:c.388C=	NP_001305051.1:p.Leu130=
XM_017014428.1:c.340C=	XP_016869917.1:p.Leu114=
XM_024447439.1:c.319C=	XP_024303207.1:p.Leu107=
XM_024447440.1:c.160C=	XP_024303208.1:p.Leu54=
NM_001318122.2:c.388C=	NP_001305051.1:p.Leu130=
NM_000476.3:c.340C= MANE Select	NP_000467.1:p.Leu114=
NR_174625.1:n.3659C=
NR_174626.1:n.3524-22C=
NR_174627.1:n.3539C=
NR_174628.1:n.2917C=
NR_174629.1:n.2862C=
NR_174630.1:n.2898C=
NR_174631.1:n.2843C=
NR_174632.1:n.2932C=