Canonical Allele Identifier: CA376917771
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69380079T>A , CM000672.2:g.69380079T>A GRCh38
NC_000010.10:g.71139835T>A , CM000672.1:g.71139835T>A GRCh37
NC_000010.9:g.70809841T>A NCBI36
NG_012077.1:g.115080T>A , LRG_365:g.115080T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000470050.2:c.1249T>A ENSP00000515580.1:p.Tyr417Asn
ENST00000703945.1:c.1165T>A ENSP00000515578.1:p.Tyr389Asn
ENST00000703946.1:c.1249T>A ENSP00000515579.1:p.Tyr417Asn
ENST00000703947.1:c.876-2408T>A ENSP00000515581.1:n.876-2408T>A
ENST00000703948.1:c.*866T>A ENSP00000515582.1:n.*866T>A
ENST00000703949.1:c.1249T>A ENSP00000515583.1:p.Tyr417Asn
ENST00000703950.1:c.1249T>A ENSP00000515584.1:p.Tyr417Asn
ENST00000703951.1:c.1249T>A ENSP00000515585.1:p.Tyr417Asn
ENST00000703952.1:c.1249T>A ENSP00000515586.1:p.Tyr417Asn
ENST00000703953.1:c.*512T>A ENSP00000515587.1:n.*512T>A
ENST00000703954.1:c.1129T>A ENSP00000515588.1:p.Tyr377Asn
ENST00000703955.1:n.1799T>A
ENST00000298649.8:c.1246T>A ENSP00000298649.3:p.Tyr416Asn
ENST00000359426.7:c.1249T>A MANE Select ENSP00000352398.6:p.Tyr417Asn
ENST00000436817.6:c.1261T>A ENSP00000415949.2:p.Tyr421Asn
ENST00000493591.6:c.*1137T>A ENSP00000494917.1:n.*1137T>A
ENST00000643399.2:c.1261T>A MANE Plus Clinical ENSP00000494664.1:p.Tyr421Asn
ENST00000298649.7:c.1246T>A ENSP00000298649.3:p.Tyr416Asn
ENST00000359426.6:c.1249T>A ENSP00000352398.6:p.Tyr417Asn
ENST00000360289.6:c.1213T>A ENSP00000353433.2:p.Tyr405Asn
ENST00000448642.6:c.1261T>A ENSP00000402103.3:p.Tyr421Asn
ENST00000494253.1:n.1475T>A
NM_000188.2:c.1249T>A NP_000179.2:p.Tyr417Asn
NM_033496.2:c.1246T>A NP_277031.1:p.Tyr416Asn
NM_033497.2:c.1261T>A NP_277032.1:p.Tyr421Asn
NM_033498.2:c.1261T>A NP_277033.1:p.Tyr421Asn
NM_033500.2:c.1213T>A , LRG_365t1:c.1213T>A NP_277035.2:p.Tyr405Asn
XM_005269735.2:c.1378T>A XP_005269792.1:p.Tyr460Asn
XM_005269736.1:c.1261T>A XP_005269793.1:p.Tyr421Asn
XM_005269737.1:c.1165T>A XP_005269794.1:p.Tyr389Asn
XM_011539732.1:c.1213T>A XP_011538034.1:p.Tyr405Asn
XM_011539733.1:c.1207T>A XP_011538035.1:p.Tyr403Asn
XM_011539734.1:c.1204T>A XP_011538036.1:p.Tyr402Asn
NM_001322364.1:c.1261T>A NP_001309293.1:p.Tyr421Asn
NM_001322365.1:c.1354T>A NP_001309294.1:p.Tyr452Asn
NM_001322366.1:c.1165T>A NP_001309295.1:p.Tyr389Asn
NM_001322367.1:c.1153T>A NP_001309296.1:p.Tyr385Asn
NM_001358263.1:c.1261T>A MANE Plus Clinical NP_001345192.1:p.Tyr421Asn
XM_024447969.1:c.1261T>A XP_024303737.1:p.Tyr421Asn
NM_000188.3:c.1249T>A MANE Select NP_000179.2:p.Tyr417Asn
NM_001322364.2:c.1261T>A NP_001309293.1:p.Tyr421Asn
NM_001322365.2:c.1354T>A NP_001309294.1:p.Tyr452Asn
NM_033496.3:c.1246T>A NP_277031.1:p.Tyr416Asn
NM_033497.3:c.1261T>A NP_277032.1:p.Tyr421Asn
NM_033498.3:c.1261T>A NP_277033.1:p.Tyr421Asn