Canonical Allele Identifier: CA376909733
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382599G>T , CM000672.2:g.69382599G>T GRCh38
NC_000010.10:g.71142355G>T , CM000672.1:g.71142355G>T GRCh37
NC_000010.9:g.70812361G>T NCBI36
NG_012077.1:g.117600G>T , LRG_365:g.117600G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470050.2:c.1378G>T ENSP00000515580.1:p.Ala460Ser
ENST00000703945.1:c.1294G>T ENSP00000515578.1:p.Ala432Ser
ENST00000703946.1:c.1265+2504G>T ENSP00000515579.1:n.1265+2504G>T
ENST00000703947.1:c.988G>T ENSP00000515581.1:p.Ala330Ser
ENST00000703948.1:c.*995G>T ENSP00000515582.1:n.*995G>T
ENST00000703949.1:c.1378G>T ENSP00000515583.1:p.Ala460Ser
ENST00000703950.1:c.1378G>T ENSP00000515584.1:p.Ala460Ser
ENST00000703951.1:c.1265+2504G>T ENSP00000515585.1:n.1265+2504G>T
ENST00000703952.1:c.1265+2504G>T ENSP00000515586.1:n.1265+2504G>T
ENST00000703953.1:c.*641G>T ENSP00000515587.1:n.*641G>T
ENST00000703954.1:c.1258G>T ENSP00000515588.1:p.Ala420Ser
ENST00000703955.1:n.1928G>T
ENST00000298649.8:c.1375G>T ENSP00000298649.3:p.Ala459Ser
ENST00000359426.7:c.1378G>T MANE Select ENSP00000352398.6:p.Ala460Ser
ENST00000436817.6:c.1390G>T ENSP00000415949.2:p.Ala464Ser
ENST00000493591.6:c.*1266G>T ENSP00000494917.1:n.*1266G>T
ENST00000643399.2:c.1390G>T MANE Plus Clinical ENSP00000494664.1:p.Ala464Ser
ENST00000298649.7:c.1375G>T ENSP00000298649.3:p.Ala459Ser
ENST00000359426.6:c.1378G>T ENSP00000352398.6:p.Ala460Ser
ENST00000360289.6:c.1342G>T ENSP00000353433.2:p.Ala448Ser
ENST00000448642.6:c.1390G>T ENSP00000402103.3:p.Ala464Ser
ENST00000494253.1:n.1604G>T
NM_000188.2:c.1378G>T NP_000179.2:p.Ala460Ser
NM_033496.2:c.1375G>T NP_277031.1:p.Ala459Ser
NM_033497.2:c.1390G>T NP_277032.1:p.Ala464Ser
NM_033498.2:c.1390G>T NP_277033.1:p.Ala464Ser
NM_033500.2:c.1342G>T , LRG_365t1:c.1342G>T NP_277035.2:p.Ala448Ser
XM_005269735.2:c.1507G>T XP_005269792.1:p.Ala503Ser
XM_005269736.1:c.1390G>T XP_005269793.1:p.Ala464Ser
XM_005269737.1:c.1294G>T XP_005269794.1:p.Ala432Ser
XM_011539732.1:c.1342G>T XP_011538034.1:p.Ala448Ser
XM_011539733.1:c.1336G>T XP_011538035.1:p.Ala446Ser
XM_011539734.1:c.1333G>T XP_011538036.1:p.Ala445Ser
NM_001322364.1:c.1390G>T NP_001309293.1:p.Ala464Ser
NM_001322365.1:c.1483G>T NP_001309294.1:p.Ala495Ser
NM_001322366.1:c.1294G>T NP_001309295.1:p.Ala432Ser
NM_001322367.1:c.1282G>T NP_001309296.1:p.Ala428Ser
NM_001358263.1:c.1390G>T MANE Plus Clinical NP_001345192.1:p.Ala464Ser
XM_024447969.1:c.1390G>T XP_024303737.1:p.Ala464Ser
NM_000188.3:c.1378G>T MANE Select NP_000179.2:p.Ala460Ser
NM_001322364.2:c.1390G>T NP_001309293.1:p.Ala464Ser
NM_001322365.2:c.1483G>T NP_001309294.1:p.Ala495Ser
NM_033496.3:c.1375G>T NP_277031.1:p.Ala459Ser
NM_033497.3:c.1390G>T NP_277032.1:p.Ala464Ser
NM_033498.3:c.1390G>T NP_277033.1:p.Ala464Ser