Canonical Allele Identifier: CA374947563

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630731G>T (hg19) ; chr9:g.127868452G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868452G>T , CM000671.2:g.127868452G>T	GRCh38
NC_000009.11:g.130630731G>T , CM000671.1:g.130630731G>T	GRCh37
NC_000009.10:g.129670552G>T	NCBI36
NG_011792.1:g.14292C>A
NG_011792.2:g.14292C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.885C>A
ENST00000643029.1:c.*2060C>A	ENSP00000496586.1:n.*2060C>A
ENST00000643338.1:c.*1949C>A	ENSP00000495890.1:n.*1949C>A
ENST00000644144.2:c.385C>A MANE Select	ENSP00000494600.1:p.Leu129Ile
ENST00000645007.1:c.*2309C>A	ENSP00000494773.1:n.*2309C>A
ENST00000646171.1:c.*418C>A	ENSP00000495484.1:n.*418C>A
ENST00000223836.10:c.433C>A	ENSP00000223836.10:p.Leu145Ile
ENST00000373156.5:c.385C>A	ENSP00000362249.1:p.Leu129Ile
ENST00000373176.5:c.385C>A	ENSP00000362271.1:p.Leu129Ile
ENST00000413016.5:c.207C>A
ENST00000550143.5:c.165C>A	ENSP00000449130.1:n.165C>A
NM_000476.2:c.385C>A	NP_000467.1:p.Leu129Ile
XM_005251786.2:c.433C>A	XP_005251843.1:p.Leu145Ile
XM_011518348.1:c.385C>A	XP_011516650.1:p.Leu129Ile
XM_011518349.1:c.205C>A	XP_011516651.1:p.Leu69Ile
NM_001318121.1:c.385C>A	NP_001305050.1:p.Leu129Ile
NM_001318122.1:c.433C>A	NP_001305051.1:p.Leu145Ile
XM_017014428.1:c.385C>A	XP_016869917.1:p.Leu129Ile
XM_024447439.1:c.364C>A	XP_024303207.1:p.Leu122Ile
XM_024447440.1:c.205C>A	XP_024303208.1:p.Leu69Ile
NM_001318122.2:c.433C>A	NP_001305051.1:p.Leu145Ile
NM_000476.3:c.385C>A MANE Select	NP_000467.1:p.Leu129Ile
NR_174625.1:n.3704C>A
NR_174626.1:n.3547C>A
NR_174627.1:n.3584C>A
NR_174628.1:n.2962C>A
NR_174629.1:n.2907C>A
NR_174630.1:n.2943C>A
NR_174631.1:n.2888C>A
NR_174632.1:n.2977C>A