Canonical Allele Identifier: CA374947353

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630701C>G (hg19) ; chr9:g.127868422C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868422C>G , CM000671.2:g.127868422C>G	GRCh38
NC_000009.11:g.130630701C>G , CM000671.1:g.130630701C>G	GRCh37
NC_000009.10:g.129670522C>G	NCBI36
NG_011792.1:g.14322G>C
NG_011792.2:g.14322G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.915G>C
ENST00000643029.1:c.*2090G>C	ENSP00000496586.1:n.*2090G>C
ENST00000643338.1:c.*1979G>C	ENSP00000495890.1:n.*1979G>C
ENST00000644144.2:c.415G>C MANE Select	ENSP00000494600.1:p.Val139Leu
ENST00000645007.1:c.*2339G>C	ENSP00000494773.1:n.*2339G>C
ENST00000646171.1:c.*448G>C	ENSP00000495484.1:n.*448G>C
ENST00000223836.10:c.463G>C	ENSP00000223836.10:p.Val155Leu
ENST00000373156.5:c.415G>C	ENSP00000362249.1:p.Val139Leu
ENST00000373176.5:c.415G>C	ENSP00000362271.1:p.Val139Leu
ENST00000413016.5:c.237G>C
ENST00000550143.5:c.195G>C	ENSP00000449130.1:n.195G>C
NM_000476.2:c.415G>C	NP_000467.1:p.Val139Leu
XM_005251786.2:c.463G>C	XP_005251843.1:p.Val155Leu
XM_011518348.1:c.415G>C	XP_011516650.1:p.Val139Leu
XM_011518349.1:c.235G>C	XP_011516651.1:p.Val79Leu
NM_001318121.1:c.415G>C	NP_001305050.1:p.Val139Leu
NM_001318122.1:c.463G>C	NP_001305051.1:p.Val155Leu
XM_017014428.1:c.415G>C	XP_016869917.1:p.Val139Leu
XM_024447439.1:c.394G>C	XP_024303207.1:p.Val132Leu
XM_024447440.1:c.235G>C	XP_024303208.1:p.Val79Leu
NM_001318122.2:c.463G>C	NP_001305051.1:p.Val155Leu
NM_000476.3:c.415G>C MANE Select	NP_000467.1:p.Val139Leu
NR_174625.1:n.3734G>C
NR_174626.1:n.3577G>C
NR_174627.1:n.3614G>C
NR_174628.1:n.2992G>C
NR_174629.1:n.2937G>C
NR_174630.1:n.2973G>C
NR_174631.1:n.2918G>C
NR_174632.1:n.3007G>C