Canonical Allele Identifier: CA376909782
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382621A>C , CM000672.2:g.69382621A>C GRCh38
NC_000010.10:g.71142377A>C , CM000672.1:g.71142377A>C GRCh37
NC_000010.9:g.70812383A>C NCBI36
NG_012077.1:g.117622A>C , LRG_365:g.117622A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1400A>C ENSP00000515580.1:p.His467Pro
ENST00000703945.1:c.1316A>C ENSP00000515578.1:p.His439Pro
ENST00000703946.1:c.1265+2526A>C ENSP00000515579.1:n.1265+2526A>C
ENST00000703947.1:c.1010A>C ENSP00000515581.1:p.His337Pro
ENST00000703948.1:c.*1017A>C ENSP00000515582.1:n.*1017A>C
ENST00000703949.1:c.1400A>C ENSP00000515583.1:p.His467Pro
ENST00000703950.1:c.1400A>C ENSP00000515584.1:p.His467Pro
ENST00000703951.1:c.1265+2526A>C ENSP00000515585.1:n.1265+2526A>C
ENST00000703952.1:c.1265+2526A>C ENSP00000515586.1:n.1265+2526A>C
ENST00000703953.1:c.*663A>C ENSP00000515587.1:n.*663A>C
ENST00000703954.1:c.1280A>C ENSP00000515588.1:p.His427Pro
ENST00000703955.1:n.1950A>C
ENST00000298649.8:c.1397A>C ENSP00000298649.3:p.His466Pro
ENST00000359426.7:c.1400A>C MANE Select ENSP00000352398.6:p.His467Pro
ENST00000436817.6:c.1412A>C ENSP00000415949.2:p.His471Pro
ENST00000493591.6:c.*1288A>C ENSP00000494917.1:n.*1288A>C
ENST00000643399.2:c.1412A>C MANE Plus Clinical ENSP00000494664.1:p.His471Pro
ENST00000298649.7:c.1397A>C ENSP00000298649.3:p.His466Pro
ENST00000359426.6:c.1400A>C ENSP00000352398.6:p.His467Pro
ENST00000360289.6:c.1364A>C ENSP00000353433.2:p.His455Pro
ENST00000448642.6:c.1412A>C ENSP00000402103.3:p.His471Pro
ENST00000494253.1:n.1626A>C
NM_000188.2:c.1400A>C NP_000179.2:p.His467Pro
NM_033496.2:c.1397A>C NP_277031.1:p.His466Pro
NM_033497.2:c.1412A>C NP_277032.1:p.His471Pro
NM_033498.2:c.1412A>C NP_277033.1:p.His471Pro
NM_033500.2:c.1364A>C , LRG_365t1:c.1364A>C NP_277035.2:p.His455Pro
XM_005269735.2:c.1529A>C XP_005269792.1:p.His510Pro
XM_005269736.1:c.1412A>C XP_005269793.1:p.His471Pro
XM_005269737.1:c.1316A>C XP_005269794.1:p.His439Pro
XM_011539732.1:c.1364A>C XP_011538034.1:p.His455Pro
XM_011539733.1:c.1358A>C XP_011538035.1:p.His453Pro
XM_011539734.1:c.1355A>C XP_011538036.1:p.His452Pro
NM_001322364.1:c.1412A>C NP_001309293.1:p.His471Pro
NM_001322365.1:c.1505A>C NP_001309294.1:p.His502Pro
NM_001322366.1:c.1316A>C NP_001309295.1:p.His439Pro
NM_001322367.1:c.1304A>C NP_001309296.1:p.His435Pro
NM_001358263.1:c.1412A>C MANE Plus Clinical NP_001345192.1:p.His471Pro
XM_024447969.1:c.1412A>C XP_024303737.1:p.His471Pro
NM_000188.3:c.1400A>C MANE Select NP_000179.2:p.His467Pro
NM_001322364.2:c.1412A>C NP_001309293.1:p.His471Pro
NM_001322365.2:c.1505A>C NP_001309294.1:p.His502Pro
NM_033496.3:c.1397A>C NP_277031.1:p.His466Pro
NM_033497.3:c.1412A>C NP_277032.1:p.His471Pro
NM_033498.3:c.1412A>C NP_277033.1:p.His471Pro