Canonical Allele Identifier: CA470027065

Gene: HK1

Linked Data

• dbSNP Id: rs1170708017
• gnomAD v2: 10-71139729-C-G
• MyVariant Identifiers: chr10:g.71139729C>G (hg19) ; chr10:g.69379973C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69379973C>G , CM000672.2:g.69379973C>G	GRCh38
NC_000010.10:g.71139729C>G , CM000672.1:g.71139729C>G	GRCh37
NC_000010.9:g.70809735C>G	NCBI36
NG_012077.1:g.114974C>G , LRG_365:g.114974C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470050.2:c.1143C>G	ENSP00000515580.1:p.Arg381=
ENST00000703945.1:c.1059C>G	ENSP00000515578.1:p.Arg353=
ENST00000703946.1:c.1143C>G	ENSP00000515579.1:p.Arg381=
ENST00000703947.1:c.876-2514C>G	ENSP00000515581.1:n.876-2514C>G
ENST00000703948.1:c.*760C>G	ENSP00000515582.1:n.*760C>G
ENST00000703949.1:c.1143C>G	ENSP00000515583.1:p.Arg381=
ENST00000703950.1:c.1143C>G	ENSP00000515584.1:p.Arg381=
ENST00000703951.1:c.1143C>G	ENSP00000515585.1:p.Arg381=
ENST00000703952.1:c.1143C>G	ENSP00000515586.1:p.Arg381=
ENST00000703953.1:c.*406C>G	ENSP00000515587.1:n.*406C>G
ENST00000703954.1:c.1023C>G	ENSP00000515588.1:p.Arg341=
ENST00000703955.1:n.1693C>G
ENST00000298649.8:c.1140C>G	ENSP00000298649.3:p.Arg380=
ENST00000359426.7:c.1143C>G MANE Select	ENSP00000352398.6:p.Arg381=
ENST00000436817.6:c.1155C>G	ENSP00000415949.2:p.Arg385=
ENST00000493591.6:c.*1031C>G	ENSP00000494917.1:n.*1031C>G
ENST00000643399.2:c.1155C>G MANE Plus Clinical	ENSP00000494664.1:p.Arg385=
ENST00000298649.7:c.1140C>G	ENSP00000298649.3:p.Arg380=
ENST00000359426.6:c.1143C>G	ENSP00000352398.6:p.Arg381=
ENST00000360289.6:c.1107C>G	ENSP00000353433.2:p.Arg369=
ENST00000448642.6:c.1155C>G	ENSP00000402103.3:p.Arg385=
ENST00000494253.1:n.1369C>G
NM_000188.2:c.1143C>G	NP_000179.2:p.Arg381=
NM_033496.2:c.1140C>G	NP_277031.1:p.Arg380=
NM_033497.2:c.1155C>G	NP_277032.1:p.Arg385=
NM_033498.2:c.1155C>G	NP_277033.1:p.Arg385=
NM_033500.2:c.1107C>G , LRG_365t1:c.1107C>G	NP_277035.2:p.Arg369=
XM_005269735.2:c.1272C>G	XP_005269792.1:p.Arg424=
XM_005269736.1:c.1155C>G	XP_005269793.1:p.Arg385=
XM_005269737.1:c.1059C>G	XP_005269794.1:p.Arg353=
XM_011539732.1:c.1107C>G	XP_011538034.1:p.Arg369=
XM_011539733.1:c.1101C>G	XP_011538035.1:p.Arg367=
XM_011539734.1:c.1098C>G	XP_011538036.1:p.Arg366=
NM_001322364.1:c.1155C>G	NP_001309293.1:p.Arg385=
NM_001322365.1:c.1248C>G	NP_001309294.1:p.Arg416=
NM_001322366.1:c.1059C>G	NP_001309295.1:p.Arg353=
NM_001322367.1:c.1047C>G	NP_001309296.1:p.Arg349=
NM_001358263.1:c.1155C>G MANE Plus Clinical	NP_001345192.1:p.Arg385=
XM_024447969.1:c.1155C>G	XP_024303737.1:p.Arg385=
NM_000188.3:c.1143C>G MANE Select	NP_000179.2:p.Arg381=
NM_001322364.2:c.1155C>G	NP_001309293.1:p.Arg385=
NM_001322365.2:c.1248C>G	NP_001309294.1:p.Arg416=
NM_033496.3:c.1140C>G	NP_277031.1:p.Arg380=
NM_033497.3:c.1155C>G	NP_277032.1:p.Arg385=
NM_033498.3:c.1155C>G	NP_277033.1:p.Arg385=