Canonical Allele Identifier: CA5532816

Gene: HK1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69394956G>A , CM000672.2:g.69394956G>A	GRCh38
NC_000010.10:g.71154712G>A , CM000672.1:g.71154712G>A	GRCh37
NC_000010.9:g.70824718G>A	NCBI36
NG_012077.1:g.129957G>A , LRG_365:g.129957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.2226G>A	ENSP00000515580.1:p.Glu742=
ENST00000703945.1:c.2142G>A	ENSP00000515578.1:p.Glu714=
ENST00000703946.1:c.1272G>A	ENSP00000515579.1:p.Glu424=
ENST00000703947.1:c.1836G>A	ENSP00000515581.1:p.Glu612=
ENST00000703948.1:c.*1843G>A	ENSP00000515582.1:n.*1843G>A
ENST00000703949.1:c.2219+2648G>A	ENSP00000515583.1:n.2219+2648G>A
ENST00000703950.1:c.1936-6035G>A	ENSP00000515584.1:n.1936-6035G>A
ENST00000703951.1:c.1266-6035G>A	ENSP00000515585.1:n.1266-6035G>A
ENST00000703952.1:c.1266-3639G>A	ENSP00000515586.1:n.1266-3639G>A
ENST00000703953.1:c.*1298+5660G>A	ENSP00000515587.1:n.*1298+5660G>A
ENST00000703954.1:c.2106G>A	ENSP00000515588.1:p.Glu702=
ENST00000703955.1:n.2776G>A
ENST00000298649.8:c.2223G>A	ENSP00000298649.3:p.Glu741=
ENST00000359426.7:c.2226G>A MANE Select	ENSP00000352398.6:p.Glu742=
ENST00000436817.6:c.2238G>A	ENSP00000415949.2:p.Glu746=
ENST00000493591.6:c.*2114G>A	ENSP00000494917.1:n.*2114G>A
ENST00000643399.2:c.2238G>A MANE Plus Clinical	ENSP00000494664.1:p.Glu746=
ENST00000298649.7:c.2223G>A	ENSP00000298649.3:p.Glu741=
ENST00000359426.6:c.2226G>A	ENSP00000352398.6:p.Glu742=
ENST00000360289.6:c.2190G>A	ENSP00000353433.2:p.Glu730=
ENST00000448642.6:c.2238G>A	ENSP00000402103.3:p.Glu746=
ENST00000470050.1:n.37G>A
NM_000188.2:c.2226G>A	NP_000179.2:p.Glu742=
NM_033496.2:c.2223G>A	NP_277031.1:p.Glu741=
NM_033497.2:c.2238G>A	NP_277032.1:p.Glu746=
NM_033498.2:c.2238G>A	NP_277033.1:p.Glu746=
NM_033500.2:c.2190G>A , LRG_365t1:c.2190G>A	NP_277035.2:p.Glu730=
XM_005269735.2:c.2355G>A	XP_005269792.1:p.Glu785=
XM_005269736.1:c.2238G>A	XP_005269793.1:p.Glu746=
XM_005269737.1:c.2142G>A	XP_005269794.1:p.Glu714=
XM_011539732.1:c.2190G>A	XP_011538034.1:p.Glu730=
XM_011539733.1:c.2184G>A	XP_011538035.1:p.Glu728=
XM_011539734.1:c.2181G>A	XP_011538036.1:p.Glu727=
NM_001322364.1:c.2238G>A	NP_001309293.1:p.Glu746=
NM_001322365.1:c.2331G>A	NP_001309294.1:p.Glu777=
NM_001322366.1:c.2142G>A	NP_001309295.1:p.Glu714=
NM_001322367.1:c.2130G>A	NP_001309296.1:p.Glu710=
NM_001358263.1:c.2238G>A MANE Plus Clinical	NP_001345192.1:p.Glu746=
XM_024447969.1:c.2238G>A	XP_024303737.1:p.Glu746=
NM_000188.3:c.2226G>A MANE Select	NP_000179.2:p.Glu742=
NM_001322364.2:c.2238G>A	NP_001309293.1:p.Glu746=
NM_001322365.2:c.2331G>A	NP_001309294.1:p.Glu777=
NM_033496.3:c.2223G>A	NP_277031.1:p.Glu741=
NM_033497.3:c.2238G>A	NP_277032.1:p.Glu746=
NM_033498.3:c.2238G>A	NP_277033.1:p.Glu746=