Canonical Allele Identifier: CA376913864

Gene: HK1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69369246G>A , CM000672.2:g.69369246G>A	GRCh38
NC_000010.10:g.71129002G>A , CM000672.1:g.71129002G>A	GRCh37
NC_000010.9:g.70799008G>A	NCBI36
NG_012077.1:g.104247G>A , LRG_365:g.104247G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000188.3:c.601G>A MANE Select	NP_000179.2:p.Ala201Thr
ENST00000359426.7:c.601G>A MANE Select	ENSP00000352398.6:p.Ala201Thr
NM_001358263.1:c.613G>A MANE Plus Clinical	NP_001345192.1:p.Ala205Thr
ENST00000643399.2:c.613G>A MANE Plus Clinical	ENSP00000494664.1:p.Ala205Thr
NM_000188.2:c.601G>A	NP_000179.2:p.Ala201Thr
NM_001322364.1:c.613G>A	NP_001309293.1:p.Ala205Thr
NM_001322364.2:c.613G>A	NP_001309293.1:p.Ala205Thr
NM_001322365.1:c.706G>A	NP_001309294.1:p.Ala236Thr
NM_001322365.2:c.706G>A	NP_001309294.1:p.Ala236Thr
NM_001322366.1:c.517G>A	NP_001309295.1:p.Ala173Thr
NM_001322367.1:c.505G>A	NP_001309296.1:p.Ala169Thr
NM_033496.2:c.598G>A	NP_277031.1:p.Ala200Thr
NM_033496.3:c.598G>A	NP_277031.1:p.Ala200Thr
NM_033497.2:c.613G>A	NP_277032.1:p.Ala205Thr
NM_033497.3:c.613G>A	NP_277032.1:p.Ala205Thr
NM_033498.2:c.613G>A	NP_277033.1:p.Ala205Thr
NM_033498.3:c.613G>A	NP_277033.1:p.Ala205Thr
NM_033500.2:c.565G>A , LRG_365t1:c.565G>A	NP_277035.2:p.Ala189Thr
ENST00000298649.7:c.598G>A	ENSP00000298649.3:p.Ala200Thr
ENST00000298649.8:c.598G>A	ENSP00000298649.3:p.Ala200Thr
ENST00000359426.6:c.601G>A	ENSP00000352398.6:p.Ala201Thr
ENST00000360289.6:c.565G>A	ENSP00000353433.2:p.Ala189Thr
ENST00000436817.5:c.598G>A	ENSP00000415949.1:p.Ala200Thr
ENST00000436817.6:c.613G>A	ENSP00000415949.2:p.Ala205Thr
ENST00000448642.6:c.613G>A	ENSP00000402103.3:p.Ala205Thr
ENST00000470050.2:c.601G>A	ENSP00000515580.1:p.Ala201Thr
ENST00000493591.5:n.605G>A
ENST00000493591.6:c.*489G>A	ENSP00000494917.1:n.*489G>A
ENST00000494253.1:n.827G>A
ENST00000703944.1:c.613G>A	ENSP00000515576.1:p.Ala205Thr
ENST00000703945.1:c.517G>A	ENSP00000515578.1:p.Ala173Thr
ENST00000703946.1:c.601G>A	ENSP00000515579.1:p.Ala201Thr
ENST00000703947.1:c.601G>A	ENSP00000515581.1:p.Ala201Thr
ENST00000703948.1:c.*218G>A	ENSP00000515582.1:n.*218G>A
ENST00000703949.1:c.601G>A	ENSP00000515583.1:p.Ala201Thr
ENST00000703950.1:c.601G>A	ENSP00000515584.1:p.Ala201Thr
ENST00000703951.1:c.601G>A	ENSP00000515585.1:p.Ala201Thr
ENST00000703952.1:c.601G>A	ENSP00000515586.1:p.Ala201Thr
ENST00000703953.1:c.601G>A	ENSP00000515587.1:p.Ala201Thr
ENST00000703954.1:c.481G>A	ENSP00000515588.1:p.Ala161Thr
ENST00000703955.1:n.1151G>A
ENST00000703956.1:n.413G>A
XM_005269735.2:c.730G>A	XP_005269792.1:p.Ala244Thr
XM_005269736.1:c.613G>A	XP_005269793.1:p.Ala205Thr
XM_005269737.1:c.517G>A	XP_005269794.1:p.Ala173Thr
XM_011539732.1:c.565G>A	XP_011538034.1:p.Ala189Thr
XM_011539733.1:c.559G>A	XP_011538035.1:p.Ala187Thr
XM_011539734.1:c.556G>A	XP_011538036.1:p.Ala186Thr
XM_024447969.1:c.613G>A	XP_024303737.1:p.Ala205Thr