Canonical Allele Identifier: CA5532907

Gene: HK1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69400994C>T , CM000672.2:g.69400994C>T	GRCh38
NC_000010.10:g.71160750C>T , CM000672.1:g.71160750C>T	GRCh37
NC_000010.9:g.70830756C>T	NCBI36
NG_012077.1:g.135995C>T , LRG_365:g.135995C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.2379C>T	ENSP00000515580.1:p.Phe793=
ENST00000703945.1:c.2529C>T	ENSP00000515578.1:p.Phe843=
ENST00000703946.1:c.1659C>T	ENSP00000515579.1:p.Phe553=
ENST00000703947.1:c.2223C>T	ENSP00000515581.1:p.Phe741=
ENST00000703948.1:c.*2230C>T	ENSP00000515582.1:n.*2230C>T
ENST00000703949.1:c.2457C>T	ENSP00000515583.1:p.Phe819=
ENST00000703950.1:c.1939C>T	ENSP00000515584.1:p.Leu647Phe
ENST00000703951.1:c.1269C>T	ENSP00000515585.1:p.Phe423=
ENST00000703952.1:c.1503C>T	ENSP00000515586.1:p.Phe501=
ENST00000703953.1:c.*1302C>T	ENSP00000515587.1:n.*1302C>T
ENST00000703954.1:c.2493C>T	ENSP00000515588.1:p.Phe831=
ENST00000703955.1:n.3163C>T
ENST00000298649.8:c.2610C>T	ENSP00000298649.3:p.Phe870=
ENST00000359426.7:c.2613C>T MANE Select	ENSP00000352398.6:p.Phe871=
ENST00000436817.6:c.2625C>T	ENSP00000415949.2:p.Phe875=
ENST00000493591.6:c.*2501C>T	ENSP00000494917.1:n.*2501C>T
ENST00000643399.2:c.2625C>T MANE Plus Clinical	ENSP00000494664.1:p.Phe875=
ENST00000298649.7:c.2610C>T	ENSP00000298649.3:p.Phe870=
ENST00000359426.6:c.2613C>T	ENSP00000352398.6:p.Phe871=
ENST00000360289.6:c.2577C>T	ENSP00000353433.2:p.Phe859=
ENST00000448642.6:c.2625C>T	ENSP00000402103.3:p.Phe875=
ENST00000470050.1:n.190C>T
NM_000188.2:c.2613C>T	NP_000179.2:p.Phe871=
NM_033496.2:c.2610C>T	NP_277031.1:p.Phe870=
NM_033497.2:c.2625C>T	NP_277032.1:p.Phe875=
NM_033498.2:c.2625C>T	NP_277033.1:p.Phe875=
NM_033500.2:c.2577C>T , LRG_365t1:c.2577C>T	NP_277035.2:p.Phe859=
XM_005269735.2:c.2742C>T	XP_005269792.1:p.Phe914=
XM_005269736.1:c.2625C>T	XP_005269793.1:p.Phe875=
XM_005269737.1:c.2529C>T	XP_005269794.1:p.Phe843=
XM_011539732.1:c.2577C>T	XP_011538034.1:p.Phe859=
XM_011539733.1:c.2571C>T	XP_011538035.1:p.Phe857=
XM_011539734.1:c.2568C>T	XP_011538036.1:p.Phe856=
NM_001322364.1:c.2625C>T	NP_001309293.1:p.Phe875=
NM_001322365.1:c.2718C>T	NP_001309294.1:p.Phe906=
NM_001322366.1:c.2529C>T	NP_001309295.1:p.Phe843=
NM_001322367.1:c.2517C>T	NP_001309296.1:p.Phe839=
NM_001358263.1:c.2625C>T MANE Plus Clinical	NP_001345192.1:p.Phe875=
XM_024447969.1:c.2625C>T	XP_024303737.1:p.Phe875=
NM_000188.3:c.2613C>T MANE Select	NP_000179.2:p.Phe871=
NM_001322364.2:c.2625C>T	NP_001309293.1:p.Phe875=
NM_001322365.2:c.2718C>T	NP_001309294.1:p.Phe906=
NM_033496.3:c.2610C>T	NP_277031.1:p.Phe870=
NM_033497.3:c.2625C>T	NP_277032.1:p.Phe875=
NM_033498.3:c.2625C>T	NP_277033.1:p.Phe875=