Canonical Allele Identifier: CA374947241

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630682G>A (hg19) ; chr9:g.127868403G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868403G>A , CM000671.2:g.127868403G>A	GRCh38
NC_000009.11:g.130630682G>A , CM000671.1:g.130630682G>A	GRCh37
NC_000009.10:g.129670503G>A	NCBI36
NG_011792.1:g.14341C>T
NG_011792.2:g.14341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.934C>T
ENST00000643029.1:c.*2109C>T	ENSP00000496586.1:n.*2109C>T
ENST00000643338.1:c.*1998C>T	ENSP00000495890.1:n.*1998C>T
ENST00000644144.2:c.434C>T MANE Select	ENSP00000494600.1:p.Thr145Ile
ENST00000645007.1:c.*2358C>T	ENSP00000494773.1:n.*2358C>T
ENST00000646171.1:c.*467C>T	ENSP00000495484.1:n.*467C>T
ENST00000223836.10:c.482C>T	ENSP00000223836.10:p.Thr161Ile
ENST00000373156.5:c.434C>T	ENSP00000362249.1:p.Thr145Ile
ENST00000373176.5:c.434C>T	ENSP00000362271.1:p.Thr145Ile
ENST00000413016.5:c.256C>T
ENST00000550143.5:c.214C>T	ENSP00000449130.1:n.214C>T
NM_000476.2:c.434C>T	NP_000467.1:p.Thr145Ile
XM_005251786.2:c.482C>T	XP_005251843.1:p.Thr161Ile
XM_011518348.1:c.434C>T	XP_011516650.1:p.Thr145Ile
XM_011518349.1:c.254C>T	XP_011516651.1:p.Thr85Ile
NM_001318121.1:c.434C>T	NP_001305050.1:p.Thr145Ile
NM_001318122.1:c.482C>T	NP_001305051.1:p.Thr161Ile
XM_017014428.1:c.434C>T	XP_016869917.1:p.Thr145Ile
XM_024447439.1:c.413C>T	XP_024303207.1:p.Thr138Ile
XM_024447440.1:c.254C>T	XP_024303208.1:p.Thr85Ile
NM_001318122.2:c.482C>T	NP_001305051.1:p.Thr161Ile
NM_000476.3:c.434C>T MANE Select	NP_000467.1:p.Thr145Ile
NR_174625.1:n.3753C>T
NR_174626.1:n.3596C>T
NR_174627.1:n.3633C>T
NR_174628.1:n.3011C>T
NR_174629.1:n.2956C>T
NR_174630.1:n.2992C>T
NR_174631.1:n.2937C>T
NR_174632.1:n.3026C>T