Canonical Allele Identifier: CA376909794

Gene: HK1

Linked Data

• ClinVar Variation Id: 1394543
• ClinVar RCV Id: RCV001884835
• dbSNP Id: rs1839447497
• MyVariant Identifiers: chr10:g.71142383A>G (hg19) ; chr10:g.69382627A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382627A>G , CM000672.2:g.69382627A>G	GRCh38
NC_000010.10:g.71142383A>G , CM000672.1:g.71142383A>G	GRCh37
NC_000010.9:g.70812389A>G	NCBI36
NG_012077.1:g.117628A>G , LRG_365:g.117628A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470050.2:c.1406A>G	ENSP00000515580.1:p.Gln469Arg
ENST00000703945.1:c.1322A>G	ENSP00000515578.1:p.Gln441Arg
ENST00000703946.1:c.1265+2532A>G	ENSP00000515579.1:n.1265+2532A>G
ENST00000703947.1:c.1016A>G	ENSP00000515581.1:p.Gln339Arg
ENST00000703948.1:c.*1023A>G	ENSP00000515582.1:n.*1023A>G
ENST00000703949.1:c.1406A>G	ENSP00000515583.1:p.Gln469Arg
ENST00000703950.1:c.1406A>G	ENSP00000515584.1:p.Gln469Arg
ENST00000703951.1:c.1265+2532A>G	ENSP00000515585.1:n.1265+2532A>G
ENST00000703952.1:c.1265+2532A>G	ENSP00000515586.1:n.1265+2532A>G
ENST00000703953.1:c.*669A>G	ENSP00000515587.1:n.*669A>G
ENST00000703954.1:c.1286A>G	ENSP00000515588.1:p.Gln429Arg
ENST00000703955.1:n.1956A>G
ENST00000298649.8:c.1403A>G	ENSP00000298649.3:p.Gln468Arg
ENST00000359426.7:c.1406A>G MANE Select	ENSP00000352398.6:p.Gln469Arg
ENST00000436817.6:c.1418A>G	ENSP00000415949.2:p.Gln473Arg
ENST00000493591.6:c.*1294A>G	ENSP00000494917.1:n.*1294A>G
ENST00000643399.2:c.1418A>G MANE Plus Clinical	ENSP00000494664.1:p.Gln473Arg
ENST00000298649.7:c.1403A>G	ENSP00000298649.3:p.Gln468Arg
ENST00000359426.6:c.1406A>G	ENSP00000352398.6:p.Gln469Arg
ENST00000360289.6:c.1370A>G	ENSP00000353433.2:p.Gln457Arg
ENST00000448642.6:c.1418A>G	ENSP00000402103.3:p.Gln473Arg
ENST00000494253.1:n.1632A>G
NM_000188.2:c.1406A>G	NP_000179.2:p.Gln469Arg
NM_033496.2:c.1403A>G	NP_277031.1:p.Gln468Arg
NM_033497.2:c.1418A>G	NP_277032.1:p.Gln473Arg
NM_033498.2:c.1418A>G	NP_277033.1:p.Gln473Arg
NM_033500.2:c.1370A>G , LRG_365t1:c.1370A>G	NP_277035.2:p.Gln457Arg
XM_005269735.2:c.1535A>G	XP_005269792.1:p.Gln512Arg
XM_005269736.1:c.1418A>G	XP_005269793.1:p.Gln473Arg
XM_005269737.1:c.1322A>G	XP_005269794.1:p.Gln441Arg
XM_011539732.1:c.1370A>G	XP_011538034.1:p.Gln457Arg
XM_011539733.1:c.1364A>G	XP_011538035.1:p.Gln455Arg
XM_011539734.1:c.1361A>G	XP_011538036.1:p.Gln454Arg
NM_001322364.1:c.1418A>G	NP_001309293.1:p.Gln473Arg
NM_001322365.1:c.1511A>G	NP_001309294.1:p.Gln504Arg
NM_001322366.1:c.1322A>G	NP_001309295.1:p.Gln441Arg
NM_001322367.1:c.1310A>G	NP_001309296.1:p.Gln437Arg
NM_001358263.1:c.1418A>G MANE Plus Clinical	NP_001345192.1:p.Gln473Arg
XM_024447969.1:c.1418A>G	XP_024303737.1:p.Gln473Arg
NM_000188.3:c.1406A>G MANE Select	NP_000179.2:p.Gln469Arg
NM_001322364.2:c.1418A>G	NP_001309293.1:p.Gln473Arg
NM_001322365.2:c.1511A>G	NP_001309294.1:p.Gln504Arg
NM_033496.3:c.1403A>G	NP_277031.1:p.Gln468Arg
NM_033497.3:c.1418A>G	NP_277032.1:p.Gln473Arg
NM_033498.3:c.1418A>G	NP_277033.1:p.Gln473Arg