Canonical Allele Identifier: CA376909719
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382593G>A , CM000672.2:g.69382593G>A GRCh38
NC_000010.10:g.71142349G>A , CM000672.1:g.71142349G>A GRCh37
NC_000010.9:g.70812355G>A NCBI36
NG_012077.1:g.117594G>A , LRG_365:g.117594G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000470050.2:c.1372G>A ENSP00000515580.1:p.Ala458Thr
ENST00000703945.1:c.1288G>A ENSP00000515578.1:p.Ala430Thr
ENST00000703946.1:c.1265+2498G>A ENSP00000515579.1:n.1265+2498G>A
ENST00000703947.1:c.982G>A ENSP00000515581.1:p.Ala328Thr
ENST00000703948.1:c.*989G>A ENSP00000515582.1:n.*989G>A
ENST00000703949.1:c.1372G>A ENSP00000515583.1:p.Ala458Thr
ENST00000703950.1:c.1372G>A ENSP00000515584.1:p.Ala458Thr
ENST00000703951.1:c.1265+2498G>A ENSP00000515585.1:n.1265+2498G>A
ENST00000703952.1:c.1265+2498G>A ENSP00000515586.1:n.1265+2498G>A
ENST00000703953.1:c.*635G>A ENSP00000515587.1:n.*635G>A
ENST00000703954.1:c.1252G>A ENSP00000515588.1:p.Ala418Thr
ENST00000703955.1:n.1922G>A
ENST00000298649.8:c.1369G>A ENSP00000298649.3:p.Ala457Thr
ENST00000359426.7:c.1372G>A MANE Select ENSP00000352398.6:p.Ala458Thr
ENST00000436817.6:c.1384G>A ENSP00000415949.2:p.Ala462Thr
ENST00000493591.6:c.*1260G>A ENSP00000494917.1:n.*1260G>A
ENST00000643399.2:c.1384G>A MANE Plus Clinical ENSP00000494664.1:p.Ala462Thr
ENST00000298649.7:c.1369G>A ENSP00000298649.3:p.Ala457Thr
ENST00000359426.6:c.1372G>A ENSP00000352398.6:p.Ala458Thr
ENST00000360289.6:c.1336G>A ENSP00000353433.2:p.Ala446Thr
ENST00000448642.6:c.1384G>A ENSP00000402103.3:p.Ala462Thr
ENST00000494253.1:n.1598G>A
NM_000188.2:c.1372G>A NP_000179.2:p.Ala458Thr
NM_033496.2:c.1369G>A NP_277031.1:p.Ala457Thr
NM_033497.2:c.1384G>A NP_277032.1:p.Ala462Thr
NM_033498.2:c.1384G>A NP_277033.1:p.Ala462Thr
NM_033500.2:c.1336G>A , LRG_365t1:c.1336G>A NP_277035.2:p.Ala446Thr
XM_005269735.2:c.1501G>A XP_005269792.1:p.Ala501Thr
XM_005269736.1:c.1384G>A XP_005269793.1:p.Ala462Thr
XM_005269737.1:c.1288G>A XP_005269794.1:p.Ala430Thr
XM_011539732.1:c.1336G>A XP_011538034.1:p.Ala446Thr
XM_011539733.1:c.1330G>A XP_011538035.1:p.Ala444Thr
XM_011539734.1:c.1327G>A XP_011538036.1:p.Ala443Thr
NM_001322364.1:c.1384G>A NP_001309293.1:p.Ala462Thr
NM_001322365.1:c.1477G>A NP_001309294.1:p.Ala493Thr
NM_001322366.1:c.1288G>A NP_001309295.1:p.Ala430Thr
NM_001322367.1:c.1276G>A NP_001309296.1:p.Ala426Thr
NM_001358263.1:c.1384G>A MANE Plus Clinical NP_001345192.1:p.Ala462Thr
XM_024447969.1:c.1384G>A XP_024303737.1:p.Ala462Thr
NM_000188.3:c.1372G>A MANE Select NP_000179.2:p.Ala458Thr
NM_001322364.2:c.1384G>A NP_001309293.1:p.Ala462Thr
NM_001322365.2:c.1477G>A NP_001309294.1:p.Ala493Thr
NM_033496.3:c.1369G>A NP_277031.1:p.Ala457Thr
NM_033497.3:c.1384G>A NP_277032.1:p.Ala462Thr
NM_033498.3:c.1384G>A NP_277033.1:p.Ala462Thr