Canonical Allele Identifier: CA374947236

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630680T>G (hg19) ; chr9:g.127868401T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868401T>G , CM000671.2:g.127868401T>G	GRCh38
NC_000009.11:g.130630680T>G , CM000671.1:g.130630680T>G	GRCh37
NC_000009.10:g.129670501T>G	NCBI36
NG_011792.1:g.14343A>C
NG_011792.2:g.14343A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.936A>C
ENST00000643029.1:c.*2111A>C	ENSP00000496586.1:n.*2111A>C
ENST00000643338.1:c.*2000A>C	ENSP00000495890.1:n.*2000A>C
ENST00000644144.2:c.436A>C MANE Select	ENSP00000494600.1:p.Ile146Leu
ENST00000645007.1:c.*2360A>C	ENSP00000494773.1:n.*2360A>C
ENST00000646171.1:c.*469A>C	ENSP00000495484.1:n.*469A>C
ENST00000223836.10:c.484A>C	ENSP00000223836.10:p.Ile162Leu
ENST00000373156.5:c.436A>C	ENSP00000362249.1:p.Ile146Leu
ENST00000373176.5:c.436A>C	ENSP00000362271.1:p.Ile146Leu
ENST00000413016.5:c.258A>C
ENST00000550143.5:c.216A>C	ENSP00000449130.1:n.216A>C
NM_000476.2:c.436A>C	NP_000467.1:p.Ile146Leu
XM_005251786.2:c.484A>C	XP_005251843.1:p.Ile162Leu
XM_011518348.1:c.436A>C	XP_011516650.1:p.Ile146Leu
XM_011518349.1:c.256A>C	XP_011516651.1:p.Ile86Leu
NM_001318121.1:c.436A>C	NP_001305050.1:p.Ile146Leu
NM_001318122.1:c.484A>C	NP_001305051.1:p.Ile162Leu
XM_017014428.1:c.436A>C	XP_016869917.1:p.Ile146Leu
XM_024447439.1:c.415A>C	XP_024303207.1:p.Ile139Leu
XM_024447440.1:c.256A>C	XP_024303208.1:p.Ile86Leu
NM_001318122.2:c.484A>C	NP_001305051.1:p.Ile162Leu
NM_000476.3:c.436A>C MANE Select	NP_000467.1:p.Ile146Leu
NR_174625.1:n.3755A>C
NR_174626.1:n.3598A>C
NR_174627.1:n.3635A>C
NR_174628.1:n.3013A>C
NR_174629.1:n.2958A>C
NR_174630.1:n.2994A>C
NR_174631.1:n.2939A>C
NR_174632.1:n.3028A>C