Canonical Allele Identifier: CA374947735

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630765A>T (hg19) ; chr9:g.127868486A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868486A>T , CM000671.2:g.127868486A>T	GRCh38
NC_000009.11:g.130630765A>T , CM000671.1:g.130630765A>T	GRCh37
NC_000009.10:g.129670586A>T	NCBI36
NG_011792.1:g.14258T>A
NG_011792.2:g.14258T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.851T>A
ENST00000643029.1:c.*2026T>A	ENSP00000496586.1:n.*2026T>A
ENST00000643338.1:c.*1915T>A	ENSP00000495890.1:n.*1915T>A
ENST00000644144.2:c.351T>A MANE Select	ENSP00000494600.1:p.Tyr117Ter
ENST00000645007.1:c.*2275T>A	ENSP00000494773.1:n.*2275T>A
ENST00000646171.1:c.*384T>A	ENSP00000495484.1:n.*384T>A
ENST00000223836.10:c.399T>A	ENSP00000223836.10:p.Tyr133Ter
ENST00000373156.5:c.351T>A	ENSP00000362249.1:p.Tyr117Ter
ENST00000373176.5:c.351T>A	ENSP00000362271.1:p.Tyr117Ter
ENST00000413016.5:c.173T>A
ENST00000550143.5:c.142-11T>A	ENSP00000449130.1:n.142-11T>A
ENST00000550992.1:c.*371T>A	ENSP00000448741.1:n.*371T>A
NM_000476.2:c.351T>A	NP_000467.1:p.Tyr117Ter
XM_005251786.2:c.399T>A	XP_005251843.1:p.Tyr133Ter
XM_011518348.1:c.351T>A	XP_011516650.1:p.Tyr117Ter
XM_011518349.1:c.171T>A	XP_011516651.1:p.Tyr57Ter
NM_001318121.1:c.351T>A	NP_001305050.1:p.Tyr117Ter
NM_001318122.1:c.399T>A	NP_001305051.1:p.Tyr133Ter
XM_017014428.1:c.351T>A	XP_016869917.1:p.Tyr117Ter
XM_024447439.1:c.330T>A	XP_024303207.1:p.Tyr110Ter
XM_024447440.1:c.171T>A	XP_024303208.1:p.Tyr57Ter
NM_001318122.2:c.399T>A	NP_001305051.1:p.Tyr133Ter
NM_000476.3:c.351T>A MANE Select	NP_000467.1:p.Tyr117Ter
NR_174625.1:n.3670T>A
NR_174626.1:n.3524-11T>A
NR_174627.1:n.3550T>A
NR_174628.1:n.2928T>A
NR_174629.1:n.2873T>A
NR_174630.1:n.2909T>A
NR_174631.1:n.2854T>A
NR_174632.1:n.2943T>A