Canonical Allele Identifier: CA374947540

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630727A>C (hg19) ; chr9:g.127868448A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868448A>C , CM000671.2:g.127868448A>C	GRCh38
NC_000009.11:g.130630727A>C , CM000671.1:g.130630727A>C	GRCh37
NC_000009.10:g.129670548A>C	NCBI36
NG_011792.1:g.14296T>G
NG_011792.2:g.14296T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.889T>G
ENST00000643029.1:c.*2064T>G	ENSP00000496586.1:n.*2064T>G
ENST00000643338.1:c.*1953T>G	ENSP00000495890.1:n.*1953T>G
ENST00000644144.2:c.389T>G MANE Select	ENSP00000494600.1:p.Leu130Trp
ENST00000645007.1:c.*2313T>G	ENSP00000494773.1:n.*2313T>G
ENST00000646171.1:c.*422T>G	ENSP00000495484.1:n.*422T>G
ENST00000223836.10:c.437T>G	ENSP00000223836.10:p.Leu146Trp
ENST00000373156.5:c.389T>G	ENSP00000362249.1:p.Leu130Trp
ENST00000373176.5:c.389T>G	ENSP00000362271.1:p.Leu130Trp
ENST00000413016.5:c.211T>G
ENST00000550143.5:c.169T>G	ENSP00000449130.1:n.169T>G
NM_000476.2:c.389T>G	NP_000467.1:p.Leu130Trp
XM_005251786.2:c.437T>G	XP_005251843.1:p.Leu146Trp
XM_011518348.1:c.389T>G	XP_011516650.1:p.Leu130Trp
XM_011518349.1:c.209T>G	XP_011516651.1:p.Leu70Trp
NM_001318121.1:c.389T>G	NP_001305050.1:p.Leu130Trp
NM_001318122.1:c.437T>G	NP_001305051.1:p.Leu146Trp
XM_017014428.1:c.389T>G	XP_016869917.1:p.Leu130Trp
XM_024447439.1:c.368T>G	XP_024303207.1:p.Leu123Trp
XM_024447440.1:c.209T>G	XP_024303208.1:p.Leu70Trp
NM_001318122.2:c.437T>G	NP_001305051.1:p.Leu146Trp
NM_000476.3:c.389T>G MANE Select	NP_000467.1:p.Leu130Trp
NR_174625.1:n.3708T>G
NR_174626.1:n.3551T>G
NR_174627.1:n.3588T>G
NR_174628.1:n.2966T>G
NR_174629.1:n.2911T>G
NR_174630.1:n.2947T>G
NR_174631.1:n.2892T>G
NR_174632.1:n.2981T>G