Canonical Allele Identifier: CA1917772262

Gene: HK1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382710C= , CM000672.2:g.69382710C=	GRCh38
NC_000010.10:g.71142466C= , CM000672.1:g.71142466C=	GRCh37
NC_000010.9:g.70812472C=	NCBI36
NG_012077.1:g.117711C= , LRG_365:g.117711C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1489C=	ENSP00000515580.1:p.Leu497=
ENST00000703945.1:c.1405C=	ENSP00000515578.1:p.Leu469=
ENST00000703946.1:c.1265+2615C=	ENSP00000515579.1:n.1265+2615C=
ENST00000703947.1:c.1099C=	ENSP00000515581.1:p.Leu367=
ENST00000703948.1:c.*1106C=	ENSP00000515582.1:n.*1106C=
ENST00000703949.1:c.1489C=	ENSP00000515583.1:p.Leu497=
ENST00000703950.1:c.1489C=	ENSP00000515584.1:p.Leu497=
ENST00000703951.1:c.1265+2615C=	ENSP00000515585.1:n.1265+2615C=
ENST00000703952.1:c.1265+2615C=	ENSP00000515586.1:n.1265+2615C=
ENST00000703953.1:c.*752C=	ENSP00000515587.1:n.*752C=
ENST00000703954.1:c.1369C=	ENSP00000515588.1:p.Leu457=
ENST00000703955.1:n.2039C=
ENST00000298649.8:c.1486C=	ENSP00000298649.3:p.Leu496=
ENST00000359426.7:c.1489C= MANE Select	ENSP00000352398.6:p.Leu497=
ENST00000436817.6:c.1501C=	ENSP00000415949.2:p.Leu501=
ENST00000493591.6:c.*1377C=	ENSP00000494917.1:n.*1377C=
ENST00000643399.2:c.1501C= MANE Plus Clinical	ENSP00000494664.1:p.Leu501=
ENST00000298649.7:c.1486C=	ENSP00000298649.3:p.Leu496=
ENST00000359426.6:c.1489C=	ENSP00000352398.6:p.Leu497=
ENST00000360289.6:c.1453C=	ENSP00000353433.2:p.Leu485=
ENST00000448642.6:c.1501C=	ENSP00000402103.3:p.Leu501=
ENST00000494253.1:n.1715C=
NM_000188.2:c.1489C=	NP_000179.2:p.Leu497=
NM_033496.2:c.1486C=	NP_277031.1:p.Leu496=
NM_033497.2:c.1501C=	NP_277032.1:p.Leu501=
NM_033498.2:c.1501C=	NP_277033.1:p.Leu501=
NM_033500.2:c.1453C= , LRG_365t1:c.1453C=	NP_277035.2:p.Leu485=
XM_005269735.2:c.1618C=	XP_005269792.1:p.Leu540=
XM_005269736.1:c.1501C=	XP_005269793.1:p.Leu501=
XM_005269737.1:c.1405C=	XP_005269794.1:p.Leu469=
XM_011539732.1:c.1453C=	XP_011538034.1:p.Leu485=
XM_011539733.1:c.1447C=	XP_011538035.1:p.Leu483=
XM_011539734.1:c.1444C=	XP_011538036.1:p.Leu482=
NM_001322364.1:c.1501C=	NP_001309293.1:p.Leu501=
NM_001322365.1:c.1594C=	NP_001309294.1:p.Leu532=
NM_001322366.1:c.1405C=	NP_001309295.1:p.Leu469=
NM_001322367.1:c.1393C=	NP_001309296.1:p.Leu465=
NM_001358263.1:c.1501C= MANE Plus Clinical	NP_001345192.1:p.Leu501=
XM_024447969.1:c.1501C=	XP_024303737.1:p.Leu501=
NM_000188.3:c.1489C= MANE Select	NP_000179.2:p.Leu497=
NM_001322364.2:c.1501C=	NP_001309293.1:p.Leu501=
NM_001322365.2:c.1594C=	NP_001309294.1:p.Leu532=
NM_033496.3:c.1486C=	NP_277031.1:p.Leu496=
NM_033497.3:c.1501C=	NP_277032.1:p.Leu501=
NM_033498.3:c.1501C=	NP_277033.1:p.Leu501=