Canonical Allele Identifier: CA376910557

Gene: HK1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69359941C>T , CM000672.2:g.69359941C>T	GRCh38
NC_000010.10:g.71119697C>T , CM000672.1:g.71119697C>T	GRCh37
NC_000010.9:g.70789703C>T	NCBI36
NG_012077.1:g.94942C>T , LRG_365:g.94942C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000188.3:c.271C>T MANE Select	NP_000179.2:p.Arg91Ter
ENST00000359426.7:c.271C>T MANE Select	ENSP00000352398.6:p.Arg91Ter
NM_001358263.1:c.283C>T MANE Plus Clinical	NP_001345192.1:p.Arg95Ter
ENST00000643399.2:c.283C>T MANE Plus Clinical	ENSP00000494664.1:p.Arg95Ter
NM_000188.2:c.271C>T	NP_000179.2:p.Arg91Ter
NM_001322364.1:c.283C>T	NP_001309293.1:p.Arg95Ter
NM_001322364.2:c.283C>T	NP_001309293.1:p.Arg95Ter
NM_001322365.1:c.376C>T	NP_001309294.1:p.Arg126Ter
NM_001322365.2:c.376C>T	NP_001309294.1:p.Arg126Ter
NM_001322366.1:c.187C>T	NP_001309295.1:p.Arg63Ter
NM_001322367.1:c.271C>T	NP_001309296.1:p.Arg91Ter
NM_033496.2:c.268C>T	NP_277031.1:p.Arg90Ter
NM_033496.3:c.268C>T	NP_277031.1:p.Arg90Ter
NM_033497.2:c.283C>T	NP_277032.1:p.Arg95Ter
NM_033497.3:c.283C>T	NP_277032.1:p.Arg95Ter
NM_033498.2:c.283C>T	NP_277033.1:p.Arg95Ter
NM_033498.3:c.283C>T	NP_277033.1:p.Arg95Ter
NM_033500.2:c.235C>T , LRG_365t1:c.235C>T	NP_277035.2:p.Arg79Ter
ENST00000298649.7:c.268C>T	ENSP00000298649.3:p.Arg90Ter
ENST00000298649.8:c.268C>T	ENSP00000298649.3:p.Arg90Ter
ENST00000359426.6:c.271C>T	ENSP00000352398.6:p.Arg91Ter
ENST00000360289.6:c.235C>T	ENSP00000353433.2:p.Arg79Ter
ENST00000421088.5:c.235C>T	ENSP00000398316.1:p.Arg79Ter
ENST00000436817.5:c.268C>T	ENSP00000415949.1:p.Arg90Ter
ENST00000436817.6:c.283C>T	ENSP00000415949.2:p.Arg95Ter
ENST00000448642.6:c.283C>T	ENSP00000402103.3:p.Arg95Ter
ENST00000450646.5:c.283C>T	ENSP00000409761.1:p.Arg95Ter
ENST00000470050.2:c.271C>T	ENSP00000515580.1:p.Arg91Ter
ENST00000483077.5:n.675C>T
ENST00000493591.5:n.275C>T
ENST00000493591.6:c.*159C>T	ENSP00000494917.1:n.*159C>T
ENST00000494253.1:n.497C>T
ENST00000703944.1:c.283C>T	ENSP00000515576.1:p.Arg95Ter
ENST00000703945.1:c.187C>T	ENSP00000515578.1:p.Arg63Ter
ENST00000703946.1:c.271C>T	ENSP00000515579.1:p.Arg91Ter
ENST00000703947.1:c.271C>T	ENSP00000515581.1:p.Arg91Ter
ENST00000703948.1:c.227-4842C>T	ENSP00000515582.1:n.227-4842C>T
ENST00000703949.1:c.271C>T	ENSP00000515583.1:p.Arg91Ter
ENST00000703950.1:c.271C>T	ENSP00000515584.1:p.Arg91Ter
ENST00000703951.1:c.271C>T	ENSP00000515585.1:p.Arg91Ter
ENST00000703952.1:c.271C>T	ENSP00000515586.1:p.Arg91Ter
ENST00000703953.1:c.271C>T	ENSP00000515587.1:p.Arg91Ter
ENST00000703954.1:c.271C>T	ENSP00000515588.1:p.Arg91Ter
ENST00000703955.1:n.821C>T
XM_005269735.2:c.400C>T	XP_005269792.1:p.Arg134Ter
XM_005269736.1:c.283C>T	XP_005269793.1:p.Arg95Ter
XM_005269737.1:c.187C>T	XP_005269794.1:p.Arg63Ter
XM_011539732.1:c.235C>T	XP_011538034.1:p.Arg79Ter
XM_011539733.1:c.229C>T	XP_011538035.1:p.Arg77Ter
XM_011539734.1:c.226C>T	XP_011538036.1:p.Arg76Ter
XM_024447969.1:c.283C>T	XP_024303737.1:p.Arg95Ter