Canonical Allele Identifier: CA200286964

Gene: AK1

Linked Data

• dbSNP Id: rs201971818
• gnomAD v2: 9-130630638-C-T
• gnomAD v3: 9-127868359-C-T
• gnomAD v4: 9-127868359-C-T
• COSMIC: COSM3699436
• MyVariant Identifiers: chr9:g.130630638C>T (hg19) ; chr9:g.130630638_130630639delinsTA (hg19) ; chr9:g.127868359C>T (hg38) ; chr9:g.127868359_127868360delinsTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868359C>T , CM000671.2:g.127868359C>T	GRCh38
NC_000009.11:g.130630638C>T , CM000671.1:g.130630638C>T	GRCh37
NC_000009.10:g.129670459C>T	NCBI36
NG_011792.1:g.14385G>A
NG_011792.2:g.14385G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.978G>A
ENST00000643029.1:c.*2153G>A	ENSP00000496586.1:n.*2153G>A
ENST00000643338.1:c.*2042G>A	ENSP00000495890.1:n.*2042G>A
ENST00000644144.2:c.478G>A MANE Select	ENSP00000494600.1:p.Val160Ile
ENST00000645007.1:c.*2402G>A	ENSP00000494773.1:n.*2402G>A
ENST00000646171.1:c.*511G>A	ENSP00000495484.1:n.*511G>A
ENST00000223836.10:c.526G>A	ENSP00000223836.10:p.Val176Ile
ENST00000373156.5:c.478G>A	ENSP00000362249.1:p.Val160Ile
ENST00000373176.5:c.478G>A	ENSP00000362271.1:p.Val160Ile
ENST00000413016.5:c.300G>A
ENST00000550143.5:c.258G>A	ENSP00000449130.1:n.258G>A
NM_000476.2:c.478G>A	NP_000467.1:p.Val160Ile
XM_005251786.2:c.526G>A	XP_005251843.1:p.Val176Ile
XM_011518348.1:c.478G>A	XP_011516650.1:p.Val160Ile
XM_011518349.1:c.298G>A	XP_011516651.1:p.Val100Ile
NM_001318121.1:c.478G>A	NP_001305050.1:p.Val160Ile
NM_001318122.1:c.526G>A	NP_001305051.1:p.Val176Ile
XM_017014428.1:c.478G>A	XP_016869917.1:p.Val160Ile
XM_024447439.1:c.457G>A	XP_024303207.1:p.Val153Ile
XM_024447440.1:c.298G>A	XP_024303208.1:p.Val100Ile
NM_001318122.2:c.526G>A	NP_001305051.1:p.Val176Ile
NM_000476.3:c.478G>A MANE Select	NP_000467.1:p.Val160Ile
NR_174625.1:n.3797G>A
NR_174626.1:n.3640G>A
NR_174627.1:n.3677G>A
NR_174628.1:n.3055G>A
NR_174629.1:n.3000G>A
NR_174630.1:n.3036G>A
NR_174631.1:n.2981G>A
NR_174632.1:n.3070G>A