Canonical Allele Identifier: CA374947680

Gene: AK1

Linked Data

• dbSNP Id: rs1443276622
• gnomAD v2: 9-130630752-G-A
• gnomAD v4: 9-127868473-G-A
• COSMIC: COSM3654520
• MyVariant Identifiers: chr9:g.130630752G>A (hg19) ; chr9:g.127868473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868473G>A , CM000671.2:g.127868473G>A	GRCh38
NC_000009.11:g.130630752G>A , CM000671.1:g.130630752G>A	GRCh37
NC_000009.10:g.129670573G>A	NCBI36
NG_011792.1:g.14271C>T
NG_011792.2:g.14271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.864C>T
ENST00000643029.1:c.*2039C>T	ENSP00000496586.1:n.*2039C>T
ENST00000643338.1:c.*1928C>T	ENSP00000495890.1:n.*1928C>T
ENST00000644144.2:c.364C>T MANE Select	ENSP00000494600.1:p.Pro122Ser
ENST00000645007.1:c.*2288C>T	ENSP00000494773.1:n.*2288C>T
ENST00000646171.1:c.*397C>T	ENSP00000495484.1:n.*397C>T
ENST00000223836.10:c.412C>T	ENSP00000223836.10:p.Pro138Ser
ENST00000373156.5:c.364C>T	ENSP00000362249.1:p.Pro122Ser
ENST00000373176.5:c.364C>T	ENSP00000362271.1:p.Pro122Ser
ENST00000413016.5:c.186C>T
ENST00000550143.5:c.144C>T	ENSP00000449130.1:p.Ala48=
ENST00000550992.1:c.*384C>T	ENSP00000448741.1:n.*384C>T
NM_000476.2:c.364C>T	NP_000467.1:p.Pro122Ser
XM_005251786.2:c.412C>T	XP_005251843.1:p.Pro138Ser
XM_011518348.1:c.364C>T	XP_011516650.1:p.Pro122Ser
XM_011518349.1:c.184C>T	XP_011516651.1:p.Pro62Ser
NM_001318121.1:c.364C>T	NP_001305050.1:p.Pro122Ser
NM_001318122.1:c.412C>T	NP_001305051.1:p.Pro138Ser
XM_017014428.1:c.364C>T	XP_016869917.1:p.Pro122Ser
XM_024447439.1:c.343C>T	XP_024303207.1:p.Pro115Ser
XM_024447440.1:c.184C>T	XP_024303208.1:p.Pro62Ser
NM_001318122.2:c.412C>T	NP_001305051.1:p.Pro138Ser
NM_000476.3:c.364C>T MANE Select	NP_000467.1:p.Pro122Ser
NR_174625.1:n.3683C>T
NR_174626.1:n.3526C>T
NR_174627.1:n.3563C>T
NR_174628.1:n.2941C>T
NR_174629.1:n.2886C>T
NR_174630.1:n.2922C>T
NR_174631.1:n.2867C>T
NR_174632.1:n.2956C>T