Canonical Allele Identifier: CA376909695
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382581G>C , CM000672.2:g.69382581G>C GRCh38
NC_000010.10:g.71142337G>C , CM000672.1:g.71142337G>C GRCh37
NC_000010.9:g.70812343G>C NCBI36
NG_012077.1:g.117582G>C , LRG_365:g.117582G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1360G>C ENSP00000515580.1:p.Ala454Pro
ENST00000703945.1:c.1276G>C ENSP00000515578.1:p.Ala426Pro
ENST00000703946.1:c.1265+2486G>C ENSP00000515579.1:n.1265+2486G>C
ENST00000703947.1:c.970G>C ENSP00000515581.1:p.Ala324Pro
ENST00000703948.1:c.*977G>C ENSP00000515582.1:n.*977G>C
ENST00000703949.1:c.1360G>C ENSP00000515583.1:p.Ala454Pro
ENST00000703950.1:c.1360G>C ENSP00000515584.1:p.Ala454Pro
ENST00000703951.1:c.1265+2486G>C ENSP00000515585.1:n.1265+2486G>C
ENST00000703952.1:c.1265+2486G>C ENSP00000515586.1:n.1265+2486G>C
ENST00000703953.1:c.*623G>C ENSP00000515587.1:n.*623G>C
ENST00000703954.1:c.1240G>C ENSP00000515588.1:p.Ala414Pro
ENST00000703955.1:n.1910G>C
ENST00000298649.8:c.1357G>C ENSP00000298649.3:p.Ala453Pro
ENST00000359426.7:c.1360G>C MANE Select ENSP00000352398.6:p.Ala454Pro
ENST00000436817.6:c.1372G>C ENSP00000415949.2:p.Ala458Pro
ENST00000493591.6:c.*1248G>C ENSP00000494917.1:n.*1248G>C
ENST00000643399.2:c.1372G>C MANE Plus Clinical ENSP00000494664.1:p.Ala458Pro
ENST00000298649.7:c.1357G>C ENSP00000298649.3:p.Ala453Pro
ENST00000359426.6:c.1360G>C ENSP00000352398.6:p.Ala454Pro
ENST00000360289.6:c.1324G>C ENSP00000353433.2:p.Ala442Pro
ENST00000448642.6:c.1372G>C ENSP00000402103.3:p.Ala458Pro
ENST00000494253.1:n.1586G>C
NM_000188.2:c.1360G>C NP_000179.2:p.Ala454Pro
NM_033496.2:c.1357G>C NP_277031.1:p.Ala453Pro
NM_033497.2:c.1372G>C NP_277032.1:p.Ala458Pro
NM_033498.2:c.1372G>C NP_277033.1:p.Ala458Pro
NM_033500.2:c.1324G>C , LRG_365t1:c.1324G>C NP_277035.2:p.Ala442Pro
XM_005269735.2:c.1489G>C XP_005269792.1:p.Ala497Pro
XM_005269736.1:c.1372G>C XP_005269793.1:p.Ala458Pro
XM_005269737.1:c.1276G>C XP_005269794.1:p.Ala426Pro
XM_011539732.1:c.1324G>C XP_011538034.1:p.Ala442Pro
XM_011539733.1:c.1318G>C XP_011538035.1:p.Ala440Pro
XM_011539734.1:c.1315G>C XP_011538036.1:p.Ala439Pro
NM_001322364.1:c.1372G>C NP_001309293.1:p.Ala458Pro
NM_001322365.1:c.1465G>C NP_001309294.1:p.Ala489Pro
NM_001322366.1:c.1276G>C NP_001309295.1:p.Ala426Pro
NM_001322367.1:c.1264G>C NP_001309296.1:p.Ala422Pro
NM_001358263.1:c.1372G>C MANE Plus Clinical NP_001345192.1:p.Ala458Pro
XM_024447969.1:c.1372G>C XP_024303737.1:p.Ala458Pro
NM_000188.3:c.1360G>C MANE Select NP_000179.2:p.Ala454Pro
NM_001322364.2:c.1372G>C NP_001309293.1:p.Ala458Pro
NM_001322365.2:c.1465G>C NP_001309294.1:p.Ala489Pro
NM_033496.3:c.1357G>C NP_277031.1:p.Ala453Pro
NM_033497.3:c.1372G>C NP_277032.1:p.Ala458Pro
NM_033498.3:c.1372G>C NP_277033.1:p.Ala458Pro