Canonical Allele Identifier: CA376910606
Gene: HK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69359951G>A , CM000672.2:g.69359951G>A GRCh38
NC_000010.10:g.71119707G>A , CM000672.1:g.71119707G>A GRCh37
NC_000010.9:g.70789713G>A NCBI36
NG_012077.1:g.94952G>A , LRG_365:g.94952G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000188.3:c.281G>A MANE Select NP_000179.2:p.Arg94Gln
ENST00000359426.7:c.281G>A MANE Select ENSP00000352398.6:p.Arg94Gln
NM_001358263.1:c.293G>A MANE Plus Clinical NP_001345192.1:p.Arg98Gln
ENST00000643399.2:c.293G>A MANE Plus Clinical ENSP00000494664.1:p.Arg98Gln
NM_000188.2:c.281G>A NP_000179.2:p.Arg94Gln
NM_001322364.1:c.293G>A NP_001309293.1:p.Arg98Gln
NM_001322364.2:c.293G>A NP_001309293.1:p.Arg98Gln
NM_001322365.1:c.386G>A NP_001309294.1:p.Arg129Gln
NM_001322365.2:c.386G>A NP_001309294.1:p.Arg129Gln
NM_001322366.1:c.197G>A NP_001309295.1:p.Arg66Gln
NM_001322367.1:c.281G>A NP_001309296.1:p.Arg94Gln
NM_033496.2:c.278G>A NP_277031.1:p.Arg93Gln
NM_033496.3:c.278G>A NP_277031.1:p.Arg93Gln
NM_033497.2:c.293G>A NP_277032.1:p.Arg98Gln
NM_033497.3:c.293G>A NP_277032.1:p.Arg98Gln
NM_033498.2:c.293G>A NP_277033.1:p.Arg98Gln
NM_033498.3:c.293G>A NP_277033.1:p.Arg98Gln
NM_033500.2:c.245G>A , LRG_365t1:c.245G>A NP_277035.2:p.Arg82Gln
ENST00000298649.7:c.278G>A ENSP00000298649.3:p.Arg93Gln
ENST00000298649.8:c.278G>A ENSP00000298649.3:p.Arg93Gln
ENST00000359426.6:c.281G>A ENSP00000352398.6:p.Arg94Gln
ENST00000360289.6:c.245G>A ENSP00000353433.2:p.Arg82Gln
ENST00000421088.5:c.245G>A ENSP00000398316.1:p.Arg82Gln
ENST00000436817.5:c.278G>A ENSP00000415949.1:p.Arg93Gln
ENST00000436817.6:c.293G>A ENSP00000415949.2:p.Arg98Gln
ENST00000448642.6:c.293G>A ENSP00000402103.3:p.Arg98Gln
ENST00000450646.5:c.293G>A ENSP00000409761.1:p.Arg98Gln
ENST00000470050.2:c.281G>A ENSP00000515580.1:p.Arg94Gln
ENST00000483077.5:n.685G>A
ENST00000493591.5:n.285G>A
ENST00000493591.6:c.*169G>A ENSP00000494917.1:n.*169G>A
ENST00000494253.1:n.507G>A
ENST00000703944.1:c.293G>A ENSP00000515576.1:p.Arg98Gln
ENST00000703945.1:c.197G>A ENSP00000515578.1:p.Arg66Gln
ENST00000703946.1:c.281G>A ENSP00000515579.1:p.Arg94Gln
ENST00000703947.1:c.281G>A ENSP00000515581.1:p.Arg94Gln
ENST00000703948.1:c.227-4832G>A ENSP00000515582.1:n.227-4832G>A
ENST00000703949.1:c.281G>A ENSP00000515583.1:p.Arg94Gln
ENST00000703950.1:c.281G>A ENSP00000515584.1:p.Arg94Gln
ENST00000703951.1:c.281G>A ENSP00000515585.1:p.Arg94Gln
ENST00000703952.1:c.281G>A ENSP00000515586.1:p.Arg94Gln
ENST00000703953.1:c.281G>A ENSP00000515587.1:p.Arg94Gln
ENST00000703954.1:c.281G>A ENSP00000515588.1:p.Arg94Gln
ENST00000703955.1:n.831G>A
XM_005269735.2:c.410G>A XP_005269792.1:p.Arg137Gln
XM_005269736.1:c.293G>A XP_005269793.1:p.Arg98Gln
XM_005269737.1:c.197G>A XP_005269794.1:p.Arg66Gln
XM_011539732.1:c.245G>A XP_011538034.1:p.Arg82Gln
XM_011539733.1:c.239G>A XP_011538035.1:p.Arg80Gln
XM_011539734.1:c.236G>A XP_011538036.1:p.Arg79Gln
XM_024447969.1:c.293G>A XP_024303737.1:p.Arg98Gln