Canonical Allele Identifier: CA376910909
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69384344T>G , CM000672.2:g.69384344T>G GRCh38
NC_000010.10:g.71144100T>G , CM000672.1:g.71144100T>G GRCh37
NC_000010.9:g.70814106T>G NCBI36
NG_012077.1:g.119345T>G , LRG_365:g.119345T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1582T>G ENSP00000515580.1:p.Phe528Val
ENST00000703945.1:c.1498T>G ENSP00000515578.1:p.Phe500Val
ENST00000703946.1:c.1265+4249T>G ENSP00000515579.1:n.1265+4249T>G
ENST00000703947.1:c.1192T>G ENSP00000515581.1:p.Phe398Val
ENST00000703948.1:c.*1199T>G ENSP00000515582.1:n.*1199T>G
ENST00000703949.1:c.1582T>G ENSP00000515583.1:p.Phe528Val
ENST00000703950.1:c.1582T>G ENSP00000515584.1:p.Phe528Val
ENST00000703951.1:c.1265+4249T>G ENSP00000515585.1:n.1265+4249T>G
ENST00000703952.1:c.1265+4249T>G ENSP00000515586.1:n.1265+4249T>G
ENST00000703953.1:c.*845T>G ENSP00000515587.1:n.*845T>G
ENST00000703954.1:c.1462T>G ENSP00000515588.1:p.Phe488Val
ENST00000703955.1:n.2132T>G
ENST00000703957.1:n.87T>G
ENST00000298649.8:c.1579T>G ENSP00000298649.3:p.Phe527Val
ENST00000359426.7:c.1582T>G MANE Select ENSP00000352398.6:p.Phe528Val
ENST00000436817.6:c.1594T>G ENSP00000415949.2:p.Phe532Val
ENST00000493591.6:c.*1470T>G ENSP00000494917.1:n.*1470T>G
ENST00000643399.2:c.1594T>G MANE Plus Clinical ENSP00000494664.1:p.Phe532Val
ENST00000298649.7:c.1579T>G ENSP00000298649.3:p.Phe527Val
ENST00000359426.6:c.1582T>G ENSP00000352398.6:p.Phe528Val
ENST00000360289.6:c.1546T>G ENSP00000353433.2:p.Phe516Val
ENST00000448642.6:c.1594T>G ENSP00000402103.3:p.Phe532Val
ENST00000494253.1:n.1808T>G
NM_000188.2:c.1582T>G NP_000179.2:p.Phe528Val
NM_033496.2:c.1579T>G NP_277031.1:p.Phe527Val
NM_033497.2:c.1594T>G NP_277032.1:p.Phe532Val
NM_033498.2:c.1594T>G NP_277033.1:p.Phe532Val
NM_033500.2:c.1546T>G , LRG_365t1:c.1546T>G NP_277035.2:p.Phe516Val
XM_005269735.2:c.1711T>G XP_005269792.1:p.Phe571Val
XM_005269736.1:c.1594T>G XP_005269793.1:p.Phe532Val
XM_005269737.1:c.1498T>G XP_005269794.1:p.Phe500Val
XM_011539732.1:c.1546T>G XP_011538034.1:p.Phe516Val
XM_011539733.1:c.1540T>G XP_011538035.1:p.Phe514Val
XM_011539734.1:c.1537T>G XP_011538036.1:p.Phe513Val
NM_001322364.1:c.1594T>G NP_001309293.1:p.Phe532Val
NM_001322365.1:c.1687T>G NP_001309294.1:p.Phe563Val
NM_001322366.1:c.1498T>G NP_001309295.1:p.Phe500Val
NM_001322367.1:c.1486T>G NP_001309296.1:p.Phe496Val
NM_001358263.1:c.1594T>G MANE Plus Clinical NP_001345192.1:p.Phe532Val
XM_024447969.1:c.1594T>G XP_024303737.1:p.Phe532Val
NM_000188.3:c.1582T>G MANE Select NP_000179.2:p.Phe528Val
NM_001322364.2:c.1594T>G NP_001309293.1:p.Phe532Val
NM_001322365.2:c.1687T>G NP_001309294.1:p.Phe563Val
NM_033496.3:c.1579T>G NP_277031.1:p.Phe527Val
NM_033497.3:c.1594T>G NP_277032.1:p.Phe532Val
NM_033498.3:c.1594T>G NP_277033.1:p.Phe532Val