Canonical Allele Identifier: CA209234207

Gene: HK1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69360022A>G , CM000672.2:g.69360022A>G	GRCh38
NC_000010.10:g.71119778A>G , CM000672.1:g.71119778A>G	GRCh37
NC_000010.9:g.70789784A>G	NCBI36
NG_012077.1:g.95023A>G , LRG_365:g.95023A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.352A>G	ENSP00000515580.1:p.Ile118Val
ENST00000703944.1:c.364A>G	ENSP00000515576.1:p.Ile122Val
ENST00000703945.1:c.268A>G	ENSP00000515578.1:p.Ile90Val
ENST00000703946.1:c.352A>G	ENSP00000515579.1:p.Ile118Val
ENST00000703947.1:c.352A>G	ENSP00000515581.1:p.Ile118Val
ENST00000703948.1:c.227-4761A>G	ENSP00000515582.1:n.227-4761A>G
ENST00000703949.1:c.352A>G	ENSP00000515583.1:p.Ile118Val
ENST00000703950.1:c.352A>G	ENSP00000515584.1:p.Ile118Val
ENST00000703951.1:c.352A>G	ENSP00000515585.1:p.Ile118Val
ENST00000703952.1:c.352A>G	ENSP00000515586.1:p.Ile118Val
ENST00000703953.1:c.352A>G	ENSP00000515587.1:p.Ile118Val
ENST00000703954.1:c.352A>G	ENSP00000515588.1:p.Ile118Val
ENST00000703955.1:n.902A>G
ENST00000298649.8:c.349A>G	ENSP00000298649.3:p.Ile117Val
ENST00000359426.7:c.352A>G MANE Select	ENSP00000352398.6:p.Ile118Val
ENST00000436817.6:c.364A>G	ENSP00000415949.2:p.Ile122Val
ENST00000493591.6:c.*240A>G	ENSP00000494917.1:n.*240A>G
ENST00000643399.2:c.364A>G MANE Plus Clinical	ENSP00000494664.1:p.Ile122Val
ENST00000298649.7:c.349A>G	ENSP00000298649.3:p.Ile117Val
ENST00000359426.6:c.352A>G	ENSP00000352398.6:p.Ile118Val
ENST00000360289.6:c.316A>G	ENSP00000353433.2:p.Ile106Val
ENST00000421088.5:c.316A>G	ENSP00000398316.1:p.Ile106Val
ENST00000436817.5:c.349A>G	ENSP00000415949.1:p.Ile117Val
ENST00000448642.6:c.364A>G	ENSP00000402103.3:p.Ile122Val
ENST00000450646.5:c.364A>G	ENSP00000409761.1:p.Ile122Val
ENST00000493591.5:n.356A>G
ENST00000494253.1:n.578A>G
NM_000188.2:c.352A>G	NP_000179.2:p.Ile118Val
NM_033496.2:c.349A>G	NP_277031.1:p.Ile117Val
NM_033497.2:c.364A>G	NP_277032.1:p.Ile122Val
NM_033498.2:c.364A>G	NP_277033.1:p.Ile122Val
NM_033500.2:c.316A>G , LRG_365t1:c.316A>G	NP_277035.2:p.Ile106Val
XM_005269735.2:c.481A>G	XP_005269792.1:p.Ile161Val
XM_005269736.1:c.364A>G	XP_005269793.1:p.Ile122Val
XM_005269737.1:c.268A>G	XP_005269794.1:p.Ile90Val
XM_011539732.1:c.316A>G	XP_011538034.1:p.Ile106Val
XM_011539733.1:c.310A>G	XP_011538035.1:p.Ile104Val
XM_011539734.1:c.307A>G	XP_011538036.1:p.Ile103Val
NM_001322364.1:c.364A>G	NP_001309293.1:p.Ile122Val
NM_001322365.1:c.457A>G	NP_001309294.1:p.Ile153Val
NM_001322366.1:c.268A>G	NP_001309295.1:p.Ile90Val
NM_001322367.1:c.352A>G	NP_001309296.1:p.Ile118Val
NM_001358263.1:c.364A>G MANE Plus Clinical	NP_001345192.1:p.Ile122Val
XM_024447969.1:c.364A>G	XP_024303737.1:p.Ile122Val
NM_000188.3:c.352A>G MANE Select	NP_000179.2:p.Ile118Val
NM_001322364.2:c.364A>G	NP_001309293.1:p.Ile122Val
NM_001322365.2:c.457A>G	NP_001309294.1:p.Ile153Val
NM_033496.3:c.349A>G	NP_277031.1:p.Ile117Val
NM_033497.3:c.364A>G	NP_277032.1:p.Ile122Val
NM_033498.3:c.364A>G	NP_277033.1:p.Ile122Val