Canonical Allele Identifier: CA374947305

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630694T>G (hg19) ; chr9:g.127868415T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868415T>G , CM000671.2:g.127868415T>G	GRCh38
NC_000009.11:g.130630694T>G , CM000671.1:g.130630694T>G	GRCh37
NC_000009.10:g.129670515T>G	NCBI36
NG_011792.1:g.14329A>C
NG_011792.2:g.14329A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.922A>C
ENST00000643029.1:c.*2097A>C	ENSP00000496586.1:n.*2097A>C
ENST00000643338.1:c.*1986A>C	ENSP00000495890.1:n.*1986A>C
ENST00000644144.2:c.422A>C MANE Select	ENSP00000494600.1:p.Asp141Ala
ENST00000645007.1:c.*2346A>C	ENSP00000494773.1:n.*2346A>C
ENST00000646171.1:c.*455A>C	ENSP00000495484.1:n.*455A>C
ENST00000223836.10:c.470A>C	ENSP00000223836.10:p.Asp157Ala
ENST00000373156.5:c.422A>C	ENSP00000362249.1:p.Asp141Ala
ENST00000373176.5:c.422A>C	ENSP00000362271.1:p.Asp141Ala
ENST00000413016.5:c.244A>C
ENST00000550143.5:c.202A>C	ENSP00000449130.1:n.202A>C
NM_000476.2:c.422A>C	NP_000467.1:p.Asp141Ala
XM_005251786.2:c.470A>C	XP_005251843.1:p.Asp157Ala
XM_011518348.1:c.422A>C	XP_011516650.1:p.Asp141Ala
XM_011518349.1:c.242A>C	XP_011516651.1:p.Asp81Ala
NM_001318121.1:c.422A>C	NP_001305050.1:p.Asp141Ala
NM_001318122.1:c.470A>C	NP_001305051.1:p.Asp157Ala
XM_017014428.1:c.422A>C	XP_016869917.1:p.Asp141Ala
XM_024447439.1:c.401A>C	XP_024303207.1:p.Asp134Ala
XM_024447440.1:c.242A>C	XP_024303208.1:p.Asp81Ala
NM_001318122.2:c.470A>C	NP_001305051.1:p.Asp157Ala
NM_000476.3:c.422A>C MANE Select	NP_000467.1:p.Asp141Ala
NR_174625.1:n.3741A>C
NR_174626.1:n.3584A>C
NR_174627.1:n.3621A>C
NR_174628.1:n.2999A>C
NR_174629.1:n.2944A>C
NR_174630.1:n.2980A>C
NR_174631.1:n.2925A>C
NR_174632.1:n.3014A>C