Canonical Allele Identifier: CA209225688
Gene: HK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69343849T>C , CM000672.2:g.69343849T>C GRCh38
NC_000010.10:g.71103605T>C , CM000672.1:g.71103605T>C GRCh37
NC_000010.9:g.70773611T>C NCBI36
NG_012077.1:g.78850T>C , LRG_365:g.78850T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.86T>C ENSP00000515580.1:p.Met29Thr
ENST00000703944.1:c.98T>C ENSP00000515576.1:p.Met33Thr
ENST00000703945.1:c.2T>C ENSP00000515578.1:p.Met1Thr
ENST00000703946.1:c.86T>C ENSP00000515579.1:p.Met29Thr
ENST00000703947.1:c.86T>C ENSP00000515581.1:p.Met29Thr
ENST00000703948.1:c.86T>C ENSP00000515582.1:p.Met29Thr
ENST00000703949.1:c.86T>C ENSP00000515583.1:p.Met29Thr
ENST00000703950.1:c.86T>C ENSP00000515584.1:p.Met29Thr
ENST00000703951.1:c.86T>C ENSP00000515585.1:p.Met29Thr
ENST00000703952.1:c.86T>C ENSP00000515586.1:p.Met29Thr
ENST00000703953.1:c.86T>C ENSP00000515587.1:p.Met29Thr
ENST00000703954.1:c.86T>C ENSP00000515588.1:p.Met29Thr
ENST00000703955.1:n.636T>C
ENST00000298649.8:c.83T>C ENSP00000298649.3:p.Met28Thr
ENST00000359426.7:c.86T>C MANE Select ENSP00000352398.6:p.Met29Thr
ENST00000436817.6:c.98T>C ENSP00000415949.2:p.Met33Thr
ENST00000493591.6:c.253T>C ENSP00000494917.1:p.Cys85Arg
ENST00000643399.2:c.98T>C MANE Plus Clinical ENSP00000494664.1:p.Met33Thr
ENST00000298649.7:c.83T>C ENSP00000298649.3:p.Met28Thr
ENST00000359426.6:c.86T>C ENSP00000352398.6:p.Met29Thr
ENST00000360289.6:c.50T>C ENSP00000353433.2:p.Met17Thr
ENST00000421088.5:c.50T>C ENSP00000398316.1:p.Met17Thr
ENST00000436817.5:c.83T>C ENSP00000415949.1:p.Met28Thr
ENST00000448642.6:c.98T>C ENSP00000402103.3:p.Met33Thr
ENST00000450646.5:c.98T>C ENSP00000409761.1:p.Met33Thr
ENST00000476368.5:n.465T>C
ENST00000483054.5:n.551T>C
ENST00000483077.5:n.490T>C
ENST00000493591.5:n.90T>C
ENST00000494253.1:n.312T>C
NM_000188.2:c.86T>C NP_000179.2:p.Met29Thr
NM_033496.2:c.83T>C NP_277031.1:p.Met28Thr
NM_033497.2:c.98T>C NP_277032.1:p.Met33Thr
NM_033498.2:c.98T>C NP_277033.1:p.Met33Thr
NM_033500.2:c.50T>C , LRG_365t1:c.50T>C NP_277035.2:p.Met17Thr
XM_005269735.2:c.215T>C XP_005269792.1:p.Met72Thr
XM_005269736.1:c.98T>C XP_005269793.1:p.Met33Thr
XM_005269737.1:c.2T>C XP_005269794.1:p.Met1Thr
XM_011539732.1:c.50T>C XP_011538034.1:p.Met17Thr
XM_011539733.1:c.44T>C XP_011538035.1:p.Met15Thr
XM_011539734.1:c.41T>C XP_011538036.1:p.Met14Thr
NM_001322364.1:c.98T>C NP_001309293.1:p.Met33Thr
NM_001322365.1:c.191T>C NP_001309294.1:p.Met64Thr
NM_001322366.1:c.2T>C NP_001309295.1:p.Met1Thr
NM_001322367.1:c.86T>C NP_001309296.1:p.Met29Thr
NM_001358263.1:c.98T>C MANE Plus Clinical NP_001345192.1:p.Met33Thr
XM_024447969.1:c.98T>C XP_024303737.1:p.Met33Thr
NM_000188.3:c.86T>C MANE Select NP_000179.2:p.Met29Thr
NM_001322364.2:c.98T>C NP_001309293.1:p.Met33Thr
NM_001322365.2:c.191T>C NP_001309294.1:p.Met64Thr
NM_033496.3:c.83T>C NP_277031.1:p.Met28Thr
NM_033497.3:c.98T>C NP_277032.1:p.Met33Thr
NM_033498.3:c.98T>C NP_277033.1:p.Met33Thr