Canonical Allele Identifier: CA1880009372

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868448A= , CM000671.2:g.127868448A=	GRCh38
NC_000009.11:g.130630727A= , CM000671.1:g.130630727A=	GRCh37
NC_000009.10:g.129670548A=	NCBI36
NG_011792.1:g.14296T=
NG_011792.2:g.14296T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.889T=
ENST00000643029.1:c.*2064T=	ENSP00000496586.1:n.*2064T=
ENST00000643338.1:c.*1953T=	ENSP00000495890.1:n.*1953T=
ENST00000644144.2:c.389T= MANE Select	ENSP00000494600.1:p.Leu130=
ENST00000645007.1:c.*2313T=	ENSP00000494773.1:n.*2313T=
ENST00000646171.1:c.*422T=	ENSP00000495484.1:n.*422T=
ENST00000223836.10:c.437T=	ENSP00000223836.10:p.Leu146=
ENST00000373156.5:c.389T=	ENSP00000362249.1:p.Leu130=
ENST00000373176.5:c.389T=	ENSP00000362271.1:p.Leu130=
ENST00000413016.5:c.211T=
ENST00000550143.5:c.169T=	ENSP00000449130.1:n.169T=
NM_000476.2:c.389T=	NP_000467.1:p.Leu130=
XM_005251786.2:c.437T=	XP_005251843.1:p.Leu146=
XM_011518348.1:c.389T=	XP_011516650.1:p.Leu130=
XM_011518349.1:c.209T=	XP_011516651.1:p.Leu70=
NM_001318121.1:c.389T=	NP_001305050.1:p.Leu130=
NM_001318122.1:c.437T=	NP_001305051.1:p.Leu146=
XM_017014428.1:c.389T=	XP_016869917.1:p.Leu130=
XM_024447439.1:c.368T=	XP_024303207.1:p.Leu123=
XM_024447440.1:c.209T=	XP_024303208.1:p.Leu70=
NM_001318122.2:c.437T=	NP_001305051.1:p.Leu146=
NM_000476.3:c.389T= MANE Select	NP_000467.1:p.Leu130=
NR_174625.1:n.3708T=
NR_174626.1:n.3551T=
NR_174627.1:n.3588T=
NR_174628.1:n.2966T=
NR_174629.1:n.2911T=
NR_174630.1:n.2947T=
NR_174631.1:n.2892T=
NR_174632.1:n.2981T=