Canonical Allele Identifier: CA376910862
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69384338G>T , CM000672.2:g.69384338G>T GRCh38
NC_000010.10:g.71144094G>T , CM000672.1:g.71144094G>T GRCh37
NC_000010.9:g.70814100G>T NCBI36
NG_012077.1:g.119339G>T , LRG_365:g.119339G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1576G>T ENSP00000515580.1:p.Gly526Cys
ENST00000703945.1:c.1492G>T ENSP00000515578.1:p.Gly498Cys
ENST00000703946.1:c.1265+4243G>T ENSP00000515579.1:n.1265+4243G>T
ENST00000703947.1:c.1186G>T ENSP00000515581.1:p.Gly396Cys
ENST00000703948.1:c.*1193G>T ENSP00000515582.1:n.*1193G>T
ENST00000703949.1:c.1576G>T ENSP00000515583.1:p.Gly526Cys
ENST00000703950.1:c.1576G>T ENSP00000515584.1:p.Gly526Cys
ENST00000703951.1:c.1265+4243G>T ENSP00000515585.1:n.1265+4243G>T
ENST00000703952.1:c.1265+4243G>T ENSP00000515586.1:n.1265+4243G>T
ENST00000703953.1:c.*839G>T ENSP00000515587.1:n.*839G>T
ENST00000703954.1:c.1456G>T ENSP00000515588.1:p.Gly486Cys
ENST00000703955.1:n.2126G>T
ENST00000703957.1:n.81G>T
ENST00000298649.8:c.1573G>T ENSP00000298649.3:p.Gly525Cys
ENST00000359426.7:c.1576G>T MANE Select ENSP00000352398.6:p.Gly526Cys
ENST00000436817.6:c.1588G>T ENSP00000415949.2:p.Gly530Cys
ENST00000493591.6:c.*1464G>T ENSP00000494917.1:n.*1464G>T
ENST00000643399.2:c.1588G>T MANE Plus Clinical ENSP00000494664.1:p.Gly530Cys
ENST00000298649.7:c.1573G>T ENSP00000298649.3:p.Gly525Cys
ENST00000359426.6:c.1576G>T ENSP00000352398.6:p.Gly526Cys
ENST00000360289.6:c.1540G>T ENSP00000353433.2:p.Gly514Cys
ENST00000448642.6:c.1588G>T ENSP00000402103.3:p.Gly530Cys
ENST00000494253.1:n.1802G>T
NM_000188.2:c.1576G>T NP_000179.2:p.Gly526Cys
NM_033496.2:c.1573G>T NP_277031.1:p.Gly525Cys
NM_033497.2:c.1588G>T NP_277032.1:p.Gly530Cys
NM_033498.2:c.1588G>T NP_277033.1:p.Gly530Cys
NM_033500.2:c.1540G>T , LRG_365t1:c.1540G>T NP_277035.2:p.Gly514Cys
XM_005269735.2:c.1705G>T XP_005269792.1:p.Gly569Cys
XM_005269736.1:c.1588G>T XP_005269793.1:p.Gly530Cys
XM_005269737.1:c.1492G>T XP_005269794.1:p.Gly498Cys
XM_011539732.1:c.1540G>T XP_011538034.1:p.Gly514Cys
XM_011539733.1:c.1534G>T XP_011538035.1:p.Gly512Cys
XM_011539734.1:c.1531G>T XP_011538036.1:p.Gly511Cys
NM_001322364.1:c.1588G>T NP_001309293.1:p.Gly530Cys
NM_001322365.1:c.1681G>T NP_001309294.1:p.Gly561Cys
NM_001322366.1:c.1492G>T NP_001309295.1:p.Gly498Cys
NM_001322367.1:c.1480G>T NP_001309296.1:p.Gly494Cys
NM_001358263.1:c.1588G>T MANE Plus Clinical NP_001345192.1:p.Gly530Cys
XM_024447969.1:c.1588G>T XP_024303737.1:p.Gly530Cys
NM_000188.3:c.1576G>T MANE Select NP_000179.2:p.Gly526Cys
NM_001322364.2:c.1588G>T NP_001309293.1:p.Gly530Cys
NM_001322365.2:c.1681G>T NP_001309294.1:p.Gly561Cys
NM_033496.3:c.1573G>T NP_277031.1:p.Gly525Cys
NM_033497.3:c.1588G>T NP_277032.1:p.Gly530Cys
NM_033498.3:c.1588G>T NP_277033.1:p.Gly530Cys