Canonical Allele Identifier: CA374947550

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630730A>G (hg19) ; chr9:g.127868451A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868451A>G , CM000671.2:g.127868451A>G	GRCh38
NC_000009.11:g.130630730A>G , CM000671.1:g.130630730A>G	GRCh37
NC_000009.10:g.129670551A>G	NCBI36
NG_011792.1:g.14293T>C
NG_011792.2:g.14293T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.886T>C
ENST00000643029.1:c.*2061T>C	ENSP00000496586.1:n.*2061T>C
ENST00000643338.1:c.*1950T>C	ENSP00000495890.1:n.*1950T>C
ENST00000644144.2:c.386T>C MANE Select	ENSP00000494600.1:p.Leu129Pro
ENST00000645007.1:c.*2310T>C	ENSP00000494773.1:n.*2310T>C
ENST00000646171.1:c.*419T>C	ENSP00000495484.1:n.*419T>C
ENST00000223836.10:c.434T>C	ENSP00000223836.10:p.Leu145Pro
ENST00000373156.5:c.386T>C	ENSP00000362249.1:p.Leu129Pro
ENST00000373176.5:c.386T>C	ENSP00000362271.1:p.Leu129Pro
ENST00000413016.5:c.208T>C
ENST00000550143.5:c.166T>C	ENSP00000449130.1:n.166T>C
NM_000476.2:c.386T>C	NP_000467.1:p.Leu129Pro
XM_005251786.2:c.434T>C	XP_005251843.1:p.Leu145Pro
XM_011518348.1:c.386T>C	XP_011516650.1:p.Leu129Pro
XM_011518349.1:c.206T>C	XP_011516651.1:p.Leu69Pro
NM_001318121.1:c.386T>C	NP_001305050.1:p.Leu129Pro
NM_001318122.1:c.434T>C	NP_001305051.1:p.Leu145Pro
XM_017014428.1:c.386T>C	XP_016869917.1:p.Leu129Pro
XM_024447439.1:c.365T>C	XP_024303207.1:p.Leu122Pro
XM_024447440.1:c.206T>C	XP_024303208.1:p.Leu69Pro
NM_001318122.2:c.434T>C	NP_001305051.1:p.Leu145Pro
NM_000476.3:c.386T>C MANE Select	NP_000467.1:p.Leu129Pro
NR_174625.1:n.3705T>C
NR_174626.1:n.3548T>C
NR_174627.1:n.3585T>C
NR_174628.1:n.2963T>C
NR_174629.1:n.2908T>C
NR_174630.1:n.2944T>C
NR_174631.1:n.2889T>C
NR_174632.1:n.2978T>C