Canonical Allele Identifier: CA470027252

Gene: HK1

Linked Data

• ClinVar Variation Id: 733356
• ClinVar RCV Id: RCV000908630
• dbSNP Id: rs1181484474
• gnomAD v2: 10-71144174-G-A
• gnomAD v3: 10-69384418-G-A
• gnomAD v4: 10-69384418-G-A
• MyVariant Identifiers: chr10:g.71144174G>A (hg19) ; chr10:g.69384418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69384418G>A , CM000672.2:g.69384418G>A	GRCh38
NC_000010.10:g.71144174G>A , CM000672.1:g.71144174G>A	GRCh37
NC_000010.9:g.70814180G>A	NCBI36
NG_012077.1:g.119419G>A , LRG_365:g.119419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1656G>A	ENSP00000515580.1:p.Thr552=
ENST00000703945.1:c.1572G>A	ENSP00000515578.1:p.Thr524=
ENST00000703946.1:c.1265+4323G>A	ENSP00000515579.1:n.1265+4323G>A
ENST00000703947.1:c.1266G>A	ENSP00000515581.1:p.Thr422=
ENST00000703948.1:c.*1273G>A	ENSP00000515582.1:n.*1273G>A
ENST00000703949.1:c.1656G>A	ENSP00000515583.1:p.Thr552=
ENST00000703950.1:c.1656G>A	ENSP00000515584.1:p.Thr552=
ENST00000703951.1:c.1265+4323G>A	ENSP00000515585.1:n.1265+4323G>A
ENST00000703952.1:c.1265+4323G>A	ENSP00000515586.1:n.1265+4323G>A
ENST00000703953.1:c.*919G>A	ENSP00000515587.1:n.*919G>A
ENST00000703954.1:c.1536G>A	ENSP00000515588.1:p.Thr512=
ENST00000703955.1:n.2206G>A
ENST00000703957.1:n.161G>A
ENST00000298649.8:c.1653G>A	ENSP00000298649.3:p.Thr551=
ENST00000359426.7:c.1656G>A MANE Select	ENSP00000352398.6:p.Thr552=
ENST00000436817.6:c.1668G>A	ENSP00000415949.2:p.Thr556=
ENST00000493591.6:c.*1544G>A	ENSP00000494917.1:n.*1544G>A
ENST00000643399.2:c.1668G>A MANE Plus Clinical	ENSP00000494664.1:p.Thr556=
ENST00000298649.7:c.1653G>A	ENSP00000298649.3:p.Thr551=
ENST00000359426.6:c.1656G>A	ENSP00000352398.6:p.Thr552=
ENST00000360289.6:c.1620G>A	ENSP00000353433.2:p.Thr540=
ENST00000448642.6:c.1668G>A	ENSP00000402103.3:p.Thr556=
ENST00000494253.1:n.1882G>A
NM_000188.2:c.1656G>A	NP_000179.2:p.Thr552=
NM_033496.2:c.1653G>A	NP_277031.1:p.Thr551=
NM_033497.2:c.1668G>A	NP_277032.1:p.Thr556=
NM_033498.2:c.1668G>A	NP_277033.1:p.Thr556=
NM_033500.2:c.1620G>A , LRG_365t1:c.1620G>A	NP_277035.2:p.Thr540=
XM_005269735.2:c.1785G>A	XP_005269792.1:p.Thr595=
XM_005269736.1:c.1668G>A	XP_005269793.1:p.Thr556=
XM_005269737.1:c.1572G>A	XP_005269794.1:p.Thr524=
XM_011539732.1:c.1620G>A	XP_011538034.1:p.Thr540=
XM_011539733.1:c.1614G>A	XP_011538035.1:p.Thr538=
XM_011539734.1:c.1611G>A	XP_011538036.1:p.Thr537=
NM_001322364.1:c.1668G>A	NP_001309293.1:p.Thr556=
NM_001322365.1:c.1761G>A	NP_001309294.1:p.Thr587=
NM_001322366.1:c.1572G>A	NP_001309295.1:p.Thr524=
NM_001322367.1:c.1560G>A	NP_001309296.1:p.Thr520=
NM_001358263.1:c.1668G>A MANE Plus Clinical	NP_001345192.1:p.Thr556=
XM_024447969.1:c.1668G>A	XP_024303737.1:p.Thr556=
NM_000188.3:c.1656G>A MANE Select	NP_000179.2:p.Thr552=
NM_001322364.2:c.1668G>A	NP_001309293.1:p.Thr556=
NM_001322365.2:c.1761G>A	NP_001309294.1:p.Thr587=
NM_033496.3:c.1653G>A	NP_277031.1:p.Thr551=
NM_033497.3:c.1668G>A	NP_277032.1:p.Thr556=
NM_033498.3:c.1668G>A	NP_277033.1:p.Thr556=