Canonical Allele Identifier: CA376913500

Gene: HK1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69368558A>G , CM000672.2:g.69368558A>G	GRCh38
NC_000010.10:g.71128314A>G , CM000672.1:g.71128314A>G	GRCh37
NC_000010.9:g.70798320A>G	NCBI36
NG_012077.1:g.103559A>G , LRG_365:g.103559A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.518A>G	ENSP00000515580.1:p.Lys173Arg
ENST00000703944.1:c.530A>G	ENSP00000515576.1:p.Lys177Arg
ENST00000703945.1:c.434A>G	ENSP00000515578.1:p.Lys145Arg
ENST00000703946.1:c.518A>G	ENSP00000515579.1:p.Lys173Arg
ENST00000703947.1:c.518A>G	ENSP00000515581.1:p.Lys173Arg
ENST00000703948.1:c.*135A>G	ENSP00000515582.1:n.*135A>G
ENST00000703949.1:c.518A>G	ENSP00000515583.1:p.Lys173Arg
ENST00000703950.1:c.518A>G	ENSP00000515584.1:p.Lys173Arg
ENST00000703951.1:c.518A>G	ENSP00000515585.1:p.Lys173Arg
ENST00000703952.1:c.518A>G	ENSP00000515586.1:p.Lys173Arg
ENST00000703953.1:c.518A>G	ENSP00000515587.1:p.Lys173Arg
ENST00000703954.1:c.398A>G	ENSP00000515588.1:p.Lys133Arg
ENST00000703955.1:n.1068A>G
ENST00000703956.1:n.330A>G
ENST00000298649.8:c.515A>G	ENSP00000298649.3:p.Lys172Arg
ENST00000359426.7:c.518A>G MANE Select	ENSP00000352398.6:p.Lys173Arg
ENST00000436817.6:c.530A>G	ENSP00000415949.2:p.Lys177Arg
ENST00000493591.6:c.*406A>G	ENSP00000494917.1:n.*406A>G
ENST00000643399.2:c.530A>G MANE Plus Clinical	ENSP00000494664.1:p.Lys177Arg
ENST00000298649.7:c.515A>G	ENSP00000298649.3:p.Lys172Arg
ENST00000359426.6:c.518A>G	ENSP00000352398.6:p.Lys173Arg
ENST00000360289.6:c.482A>G	ENSP00000353433.2:p.Lys161Arg
ENST00000436817.5:c.515A>G	ENSP00000415949.1:p.Lys172Arg
ENST00000448642.6:c.530A>G	ENSP00000402103.3:p.Lys177Arg
ENST00000493591.5:n.522A>G
ENST00000494253.1:n.744A>G
NM_000188.2:c.518A>G	NP_000179.2:p.Lys173Arg
NM_033496.2:c.515A>G	NP_277031.1:p.Lys172Arg
NM_033497.2:c.530A>G	NP_277032.1:p.Lys177Arg
NM_033498.2:c.530A>G	NP_277033.1:p.Lys177Arg
NM_033500.2:c.482A>G , LRG_365t1:c.482A>G	NP_277035.2:p.Lys161Arg
XM_005269735.2:c.647A>G	XP_005269792.1:p.Lys216Arg
XM_005269736.1:c.530A>G	XP_005269793.1:p.Lys177Arg
XM_005269737.1:c.434A>G	XP_005269794.1:p.Lys145Arg
XM_011539732.1:c.482A>G	XP_011538034.1:p.Lys161Arg
XM_011539733.1:c.476A>G	XP_011538035.1:p.Lys159Arg
XM_011539734.1:c.473A>G	XP_011538036.1:p.Lys158Arg
NM_001322364.1:c.530A>G	NP_001309293.1:p.Lys177Arg
NM_001322365.1:c.623A>G	NP_001309294.1:p.Lys208Arg
NM_001322366.1:c.434A>G	NP_001309295.1:p.Lys145Arg
NM_001322367.1:c.496-679A>G	NP_001309296.1:n.496-679A>G
NM_001358263.1:c.530A>G MANE Plus Clinical	NP_001345192.1:p.Lys177Arg
XM_024447969.1:c.530A>G	XP_024303737.1:p.Lys177Arg
NM_000188.3:c.518A>G MANE Select	NP_000179.2:p.Lys173Arg
NM_001322364.2:c.530A>G	NP_001309293.1:p.Lys177Arg
NM_001322365.2:c.623A>G	NP_001309294.1:p.Lys208Arg
NM_033496.3:c.515A>G	NP_277031.1:p.Lys172Arg
NM_033497.3:c.530A>G	NP_277032.1:p.Lys177Arg
NM_033498.3:c.530A>G	NP_277033.1:p.Lys177Arg