Canonical Allele Identifier: CA5532772

Gene: HK1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69392129C>T , CM000672.2:g.69392129C>T	GRCh38
NC_000010.10:g.71151885C>T , CM000672.1:g.71151885C>T	GRCh37
NC_000010.9:g.70821891C>T	NCBI36
NG_012077.1:g.127130C>T , LRG_365:g.127130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.2040C>T	ENSP00000515580.1:p.Thr680=
ENST00000703945.1:c.1956C>T	ENSP00000515578.1:p.Thr652=
ENST00000703946.1:c.1266-2821C>T	ENSP00000515579.1:n.1266-2821C>T
ENST00000703947.1:c.1650C>T	ENSP00000515581.1:p.Thr550=
ENST00000703948.1:c.*1657C>T	ENSP00000515582.1:n.*1657C>T
ENST00000703949.1:c.2040C>T	ENSP00000515583.1:p.Thr680=
ENST00000703950.1:c.1935+5711C>T	ENSP00000515584.1:n.1935+5711C>T
ENST00000703951.1:c.1266-8862C>T	ENSP00000515585.1:n.1266-8862C>T
ENST00000703952.1:c.1266-6466C>T	ENSP00000515586.1:n.1266-6466C>T
ENST00000703953.1:c.*1298+2833C>T	ENSP00000515587.1:n.*1298+2833C>T
ENST00000703954.1:c.1920C>T	ENSP00000515588.1:p.Thr640=
ENST00000703955.1:n.2590C>T
ENST00000703957.1:n.445C>T
ENST00000298649.8:c.2037C>T	ENSP00000298649.3:p.Thr679=
ENST00000359426.7:c.2040C>T MANE Select	ENSP00000352398.6:p.Thr680=
ENST00000436817.6:c.2052C>T	ENSP00000415949.2:p.Thr684=
ENST00000493591.6:c.*1928C>T	ENSP00000494917.1:n.*1928C>T
ENST00000643399.2:c.2052C>T MANE Plus Clinical	ENSP00000494664.1:p.Thr684=
ENST00000298649.7:c.2037C>T	ENSP00000298649.3:p.Thr679=
ENST00000359426.6:c.2040C>T	ENSP00000352398.6:p.Thr680=
ENST00000360289.6:c.2004C>T	ENSP00000353433.2:p.Thr668=
ENST00000448642.6:c.2052C>T	ENSP00000402103.3:p.Thr684=
NM_000188.2:c.2040C>T	NP_000179.2:p.Thr680=
NM_033496.2:c.2037C>T	NP_277031.1:p.Thr679=
NM_033497.2:c.2052C>T	NP_277032.1:p.Thr684=
NM_033498.2:c.2052C>T	NP_277033.1:p.Thr684=
NM_033500.2:c.2004C>T , LRG_365t1:c.2004C>T	NP_277035.2:p.Thr668=
XM_005269735.2:c.2169C>T	XP_005269792.1:p.Thr723=
XM_005269736.1:c.2052C>T	XP_005269793.1:p.Thr684=
XM_005269737.1:c.1956C>T	XP_005269794.1:p.Thr652=
XM_011539732.1:c.2004C>T	XP_011538034.1:p.Thr668=
XM_011539733.1:c.1998C>T	XP_011538035.1:p.Thr666=
XM_011539734.1:c.1995C>T	XP_011538036.1:p.Thr665=
NM_001322364.1:c.2052C>T	NP_001309293.1:p.Thr684=
NM_001322365.1:c.2145C>T	NP_001309294.1:p.Thr715=
NM_001322366.1:c.1956C>T	NP_001309295.1:p.Thr652=
NM_001322367.1:c.1944C>T	NP_001309296.1:p.Thr648=
NM_001358263.1:c.2052C>T MANE Plus Clinical	NP_001345192.1:p.Thr684=
XM_024447969.1:c.2052C>T	XP_024303737.1:p.Thr684=
NM_000188.3:c.2040C>T MANE Select	NP_000179.2:p.Thr680=
NM_001322364.2:c.2052C>T	NP_001309293.1:p.Thr684=
NM_001322365.2:c.2145C>T	NP_001309294.1:p.Thr715=
NM_033496.3:c.2037C>T	NP_277031.1:p.Thr679=
NM_033497.3:c.2052C>T	NP_277032.1:p.Thr684=
NM_033498.3:c.2052C>T	NP_277033.1:p.Thr684=