Canonical Allele Identifier: CA1917772068
Gene: HK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382587G= , CM000672.2:g.69382587G= GRCh38
NC_000010.10:g.71142343G= , CM000672.1:g.71142343G= GRCh37
NC_000010.9:g.70812349G= NCBI36
NG_012077.1:g.117588G= , LRG_365:g.117588G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1366G= ENSP00000515580.1:p.Val456=
ENST00000703945.1:c.1282G= ENSP00000515578.1:p.Val428=
ENST00000703946.1:c.1265+2492G= ENSP00000515579.1:n.1265+2492G=
ENST00000703947.1:c.976G= ENSP00000515581.1:p.Val326=
ENST00000703948.1:c.*983G= ENSP00000515582.1:n.*983G=
ENST00000703949.1:c.1366G= ENSP00000515583.1:p.Val456=
ENST00000703950.1:c.1366G= ENSP00000515584.1:p.Val456=
ENST00000703951.1:c.1265+2492G= ENSP00000515585.1:n.1265+2492G=
ENST00000703952.1:c.1265+2492G= ENSP00000515586.1:n.1265+2492G=
ENST00000703953.1:c.*629G= ENSP00000515587.1:n.*629G=
ENST00000703954.1:c.1246G= ENSP00000515588.1:p.Val416=
ENST00000703955.1:n.1916G=
ENST00000298649.8:c.1363G= ENSP00000298649.3:p.Val455=
ENST00000359426.7:c.1366G= MANE Select ENSP00000352398.6:p.Val456=
ENST00000436817.6:c.1378G= ENSP00000415949.2:p.Val460=
ENST00000493591.6:c.*1254G= ENSP00000494917.1:n.*1254G=
ENST00000643399.2:c.1378G= MANE Plus Clinical ENSP00000494664.1:p.Val460=
ENST00000298649.7:c.1363G= ENSP00000298649.3:p.Val455=
ENST00000359426.6:c.1366G= ENSP00000352398.6:p.Val456=
ENST00000360289.6:c.1330G= ENSP00000353433.2:p.Val444=
ENST00000448642.6:c.1378G= ENSP00000402103.3:p.Val460=
ENST00000494253.1:n.1592G=
NM_000188.2:c.1366G= NP_000179.2:p.Val456=
NM_033496.2:c.1363G= NP_277031.1:p.Val455=
NM_033497.2:c.1378G= NP_277032.1:p.Val460=
NM_033498.2:c.1378G= NP_277033.1:p.Val460=
NM_033500.2:c.1330G= , LRG_365t1:c.1330G= NP_277035.2:p.Val444=
XM_005269735.2:c.1495G= XP_005269792.1:p.Val499=
XM_005269736.1:c.1378G= XP_005269793.1:p.Val460=
XM_005269737.1:c.1282G= XP_005269794.1:p.Val428=
XM_011539732.1:c.1330G= XP_011538034.1:p.Val444=
XM_011539733.1:c.1324G= XP_011538035.1:p.Val442=
XM_011539734.1:c.1321G= XP_011538036.1:p.Val441=
NM_001322364.1:c.1378G= NP_001309293.1:p.Val460=
NM_001322365.1:c.1471G= NP_001309294.1:p.Val491=
NM_001322366.1:c.1282G= NP_001309295.1:p.Val428=
NM_001322367.1:c.1270G= NP_001309296.1:p.Val424=
NM_001358263.1:c.1378G= MANE Plus Clinical NP_001345192.1:p.Val460=
XM_024447969.1:c.1378G= XP_024303737.1:p.Val460=
NM_000188.3:c.1366G= MANE Select NP_000179.2:p.Val456=
NM_001322364.2:c.1378G= NP_001309293.1:p.Val460=
NM_001322365.2:c.1471G= NP_001309294.1:p.Val491=
NM_033496.3:c.1363G= NP_277031.1:p.Val455=
NM_033497.3:c.1378G= NP_277032.1:p.Val460=
NM_033498.3:c.1378G= NP_277033.1:p.Val460=