Canonical Allele Identifier: CA376910810
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69384333A>T , CM000672.2:g.69384333A>T GRCh38
NC_000010.10:g.71144089A>T , CM000672.1:g.71144089A>T GRCh37
NC_000010.9:g.70814095A>T NCBI36
NG_012077.1:g.119334A>T , LRG_365:g.119334A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1571A>T ENSP00000515580.1:p.Glu524Val
ENST00000703945.1:c.1487A>T ENSP00000515578.1:p.Glu496Val
ENST00000703946.1:c.1265+4238A>T ENSP00000515579.1:n.1265+4238A>T
ENST00000703947.1:c.1181A>T ENSP00000515581.1:p.Glu394Val
ENST00000703948.1:c.*1188A>T ENSP00000515582.1:n.*1188A>T
ENST00000703949.1:c.1571A>T ENSP00000515583.1:p.Glu524Val
ENST00000703950.1:c.1571A>T ENSP00000515584.1:p.Glu524Val
ENST00000703951.1:c.1265+4238A>T ENSP00000515585.1:n.1265+4238A>T
ENST00000703952.1:c.1265+4238A>T ENSP00000515586.1:n.1265+4238A>T
ENST00000703953.1:c.*834A>T ENSP00000515587.1:n.*834A>T
ENST00000703954.1:c.1451A>T ENSP00000515588.1:p.Glu484Val
ENST00000703955.1:n.2121A>T
ENST00000703957.1:n.76A>T
ENST00000298649.8:c.1568A>T ENSP00000298649.3:p.Glu523Val
ENST00000359426.7:c.1571A>T MANE Select ENSP00000352398.6:p.Glu524Val
ENST00000436817.6:c.1583A>T ENSP00000415949.2:p.Glu528Val
ENST00000493591.6:c.*1459A>T ENSP00000494917.1:n.*1459A>T
ENST00000643399.2:c.1583A>T MANE Plus Clinical ENSP00000494664.1:p.Glu528Val
ENST00000298649.7:c.1568A>T ENSP00000298649.3:p.Glu523Val
ENST00000359426.6:c.1571A>T ENSP00000352398.6:p.Glu524Val
ENST00000360289.6:c.1535A>T ENSP00000353433.2:p.Glu512Val
ENST00000448642.6:c.1583A>T ENSP00000402103.3:p.Glu528Val
ENST00000494253.1:n.1797A>T
NM_000188.2:c.1571A>T NP_000179.2:p.Glu524Val
NM_033496.2:c.1568A>T NP_277031.1:p.Glu523Val
NM_033497.2:c.1583A>T NP_277032.1:p.Glu528Val
NM_033498.2:c.1583A>T NP_277033.1:p.Glu528Val
NM_033500.2:c.1535A>T , LRG_365t1:c.1535A>T NP_277035.2:p.Glu512Val
XM_005269735.2:c.1700A>T XP_005269792.1:p.Glu567Val
XM_005269736.1:c.1583A>T XP_005269793.1:p.Glu528Val
XM_005269737.1:c.1487A>T XP_005269794.1:p.Glu496Val
XM_011539732.1:c.1535A>T XP_011538034.1:p.Glu512Val
XM_011539733.1:c.1529A>T XP_011538035.1:p.Glu510Val
XM_011539734.1:c.1526A>T XP_011538036.1:p.Glu509Val
NM_001322364.1:c.1583A>T NP_001309293.1:p.Glu528Val
NM_001322365.1:c.1676A>T NP_001309294.1:p.Glu559Val
NM_001322366.1:c.1487A>T NP_001309295.1:p.Glu496Val
NM_001322367.1:c.1475A>T NP_001309296.1:p.Glu492Val
NM_001358263.1:c.1583A>T MANE Plus Clinical NP_001345192.1:p.Glu528Val
XM_024447969.1:c.1583A>T XP_024303737.1:p.Glu528Val
NM_000188.3:c.1571A>T MANE Select NP_000179.2:p.Glu524Val
NM_001322364.2:c.1583A>T NP_001309293.1:p.Glu528Val
NM_001322365.2:c.1676A>T NP_001309294.1:p.Glu559Val
NM_033496.3:c.1568A>T NP_277031.1:p.Glu523Val
NM_033497.3:c.1583A>T NP_277032.1:p.Glu528Val
NM_033498.3:c.1583A>T NP_277033.1:p.Glu528Val