Canonical Allele Identifier: CA374947149

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630667A>G (hg19) ; chr9:g.127868388A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868388A>G , CM000671.2:g.127868388A>G	GRCh38
NC_000009.11:g.130630667A>G , CM000671.1:g.130630667A>G	GRCh37
NC_000009.10:g.129670488A>G	NCBI36
NG_011792.1:g.14356T>C
NG_011792.2:g.14356T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.949T>C
ENST00000643029.1:c.*2124T>C	ENSP00000496586.1:n.*2124T>C
ENST00000643338.1:c.*2013T>C	ENSP00000495890.1:n.*2013T>C
ENST00000644144.2:c.449T>C MANE Select	ENSP00000494600.1:p.Leu150Pro
ENST00000645007.1:c.*2373T>C	ENSP00000494773.1:n.*2373T>C
ENST00000646171.1:c.*482T>C	ENSP00000495484.1:n.*482T>C
ENST00000223836.10:c.497T>C	ENSP00000223836.10:p.Leu166Pro
ENST00000373156.5:c.449T>C	ENSP00000362249.1:p.Leu150Pro
ENST00000373176.5:c.449T>C	ENSP00000362271.1:p.Leu150Pro
ENST00000413016.5:c.271T>C
ENST00000550143.5:c.229T>C	ENSP00000449130.1:n.229T>C
NM_000476.2:c.449T>C	NP_000467.1:p.Leu150Pro
XM_005251786.2:c.497T>C	XP_005251843.1:p.Leu166Pro
XM_011518348.1:c.449T>C	XP_011516650.1:p.Leu150Pro
XM_011518349.1:c.269T>C	XP_011516651.1:p.Leu90Pro
NM_001318121.1:c.449T>C	NP_001305050.1:p.Leu150Pro
NM_001318122.1:c.497T>C	NP_001305051.1:p.Leu166Pro
XM_017014428.1:c.449T>C	XP_016869917.1:p.Leu150Pro
XM_024447439.1:c.428T>C	XP_024303207.1:p.Leu143Pro
XM_024447440.1:c.269T>C	XP_024303208.1:p.Leu90Pro
NM_001318122.2:c.497T>C	NP_001305051.1:p.Leu166Pro
NM_000476.3:c.449T>C MANE Select	NP_000467.1:p.Leu150Pro
NR_174625.1:n.3768T>C
NR_174626.1:n.3611T>C
NR_174627.1:n.3648T>C
NR_174628.1:n.3026T>C
NR_174629.1:n.2971T>C
NR_174630.1:n.3007T>C
NR_174631.1:n.2952T>C
NR_174632.1:n.3041T>C