Canonical Allele Identifier: CA1880009395

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868495C= , CM000671.2:g.127868495C=	GRCh38
NC_000009.11:g.130630774C= , CM000671.1:g.130630774C=	GRCh37
NC_000009.10:g.129670595C=	NCBI36
NG_011792.1:g.14249G=
NG_011792.2:g.14249G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.842G=
ENST00000643029.1:c.*2017G=	ENSP00000496586.1:n.*2017G=
ENST00000643338.1:c.*1906G=	ENSP00000495890.1:n.*1906G=
ENST00000644144.2:c.342G= MANE Select	ENSP00000494600.1:p.Leu114=
ENST00000645007.1:c.*2266G=	ENSP00000494773.1:n.*2266G=
ENST00000646171.1:c.*375G=	ENSP00000495484.1:n.*375G=
ENST00000223836.10:c.390G=	ENSP00000223836.10:p.Leu130=
ENST00000373156.5:c.342G=	ENSP00000362249.1:p.Leu114=
ENST00000373176.5:c.342G=	ENSP00000362271.1:p.Leu114=
ENST00000413016.5:c.164G=
ENST00000550143.5:c.142-20G=	ENSP00000449130.1:n.142-20G=
ENST00000550992.1:c.*362G=	ENSP00000448741.1:n.*362G=
NM_000476.2:c.342G=	NP_000467.1:p.Leu114=
XM_005251786.2:c.390G=	XP_005251843.1:p.Leu130=
XM_011518348.1:c.342G=	XP_011516650.1:p.Leu114=
XM_011518349.1:c.162G=	XP_011516651.1:p.Leu54=
NM_001318121.1:c.342G=	NP_001305050.1:p.Leu114=
NM_001318122.1:c.390G=	NP_001305051.1:p.Leu130=
XM_017014428.1:c.342G=	XP_016869917.1:p.Leu114=
XM_024447439.1:c.321G=	XP_024303207.1:p.Leu107=
XM_024447440.1:c.162G=	XP_024303208.1:p.Leu54=
NM_001318122.2:c.390G=	NP_001305051.1:p.Leu130=
NM_000476.3:c.342G= MANE Select	NP_000467.1:p.Leu114=
NR_174625.1:n.3661G=
NR_174626.1:n.3524-20G=
NR_174627.1:n.3541G=
NR_174628.1:n.2919G=
NR_174629.1:n.2864G=
NR_174630.1:n.2900G=
NR_174631.1:n.2845G=
NR_174632.1:n.2934G=