Canonical Allele Identifier: CA5532648

Gene: HK1

Linked Data

• ClinVar Variation Id: 1492485
• ClinVar RCV Id: RCV002012428
• dbSNP Id: rs753390525
• ExAC: 10:71144154 C / T
• gnomAD v2: 10-71144154-C-T
• gnomAD v3: 10-69384398-C-T
• gnomAD v4: 10-69384398-C-T
• COSMIC: COSM1254249 ; COSM1254250 ; COSM3439983 ; COSM3439984
• MyVariant Identifiers: chr10:g.71144154C>T (hg19) ; chr10:g.69384398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69384398C>T , CM000672.2:g.69384398C>T	GRCh38
NC_000010.10:g.71144154C>T , CM000672.1:g.71144154C>T	GRCh37
NC_000010.9:g.70814160C>T	NCBI36
NG_012077.1:g.119399C>T , LRG_365:g.119399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1636C>T	ENSP00000515580.1:p.Arg546Cys
ENST00000703945.1:c.1552C>T	ENSP00000515578.1:p.Arg518Cys
ENST00000703946.1:c.1265+4303C>T	ENSP00000515579.1:n.1265+4303C>T
ENST00000703947.1:c.1246C>T	ENSP00000515581.1:p.Arg416Cys
ENST00000703948.1:c.*1253C>T	ENSP00000515582.1:n.*1253C>T
ENST00000703949.1:c.1636C>T	ENSP00000515583.1:p.Arg546Cys
ENST00000703950.1:c.1636C>T	ENSP00000515584.1:p.Arg546Cys
ENST00000703951.1:c.1265+4303C>T	ENSP00000515585.1:n.1265+4303C>T
ENST00000703952.1:c.1265+4303C>T	ENSP00000515586.1:n.1265+4303C>T
ENST00000703953.1:c.*899C>T	ENSP00000515587.1:n.*899C>T
ENST00000703954.1:c.1516C>T	ENSP00000515588.1:p.Arg506Cys
ENST00000703955.1:n.2186C>T
ENST00000703957.1:n.141C>T
ENST00000298649.8:c.1633C>T	ENSP00000298649.3:p.Arg545Cys
ENST00000359426.7:c.1636C>T MANE Select	ENSP00000352398.6:p.Arg546Cys
ENST00000436817.6:c.1648C>T	ENSP00000415949.2:p.Arg550Cys
ENST00000493591.6:c.*1524C>T	ENSP00000494917.1:n.*1524C>T
ENST00000643399.2:c.1648C>T MANE Plus Clinical	ENSP00000494664.1:p.Arg550Cys
ENST00000298649.7:c.1633C>T	ENSP00000298649.3:p.Arg545Cys
ENST00000359426.6:c.1636C>T	ENSP00000352398.6:p.Arg546Cys
ENST00000360289.6:c.1600C>T	ENSP00000353433.2:p.Arg534Cys
ENST00000448642.6:c.1648C>T	ENSP00000402103.3:p.Arg550Cys
ENST00000494253.1:n.1862C>T
NM_000188.2:c.1636C>T	NP_000179.2:p.Arg546Cys
NM_033496.2:c.1633C>T	NP_277031.1:p.Arg545Cys
NM_033497.2:c.1648C>T	NP_277032.1:p.Arg550Cys
NM_033498.2:c.1648C>T	NP_277033.1:p.Arg550Cys
NM_033500.2:c.1600C>T , LRG_365t1:c.1600C>T	NP_277035.2:p.Arg534Cys
XM_005269735.2:c.1765C>T	XP_005269792.1:p.Arg589Cys
XM_005269736.1:c.1648C>T	XP_005269793.1:p.Arg550Cys
XM_005269737.1:c.1552C>T	XP_005269794.1:p.Arg518Cys
XM_011539732.1:c.1600C>T	XP_011538034.1:p.Arg534Cys
XM_011539733.1:c.1594C>T	XP_011538035.1:p.Arg532Cys
XM_011539734.1:c.1591C>T	XP_011538036.1:p.Arg531Cys
NM_001322364.1:c.1648C>T	NP_001309293.1:p.Arg550Cys
NM_001322365.1:c.1741C>T	NP_001309294.1:p.Arg581Cys
NM_001322366.1:c.1552C>T	NP_001309295.1:p.Arg518Cys
NM_001322367.1:c.1540C>T	NP_001309296.1:p.Arg514Cys
NM_001358263.1:c.1648C>T MANE Plus Clinical	NP_001345192.1:p.Arg550Cys
XM_024447969.1:c.1648C>T	XP_024303737.1:p.Arg550Cys
NM_000188.3:c.1636C>T MANE Select	NP_000179.2:p.Arg546Cys
NM_001322364.2:c.1648C>T	NP_001309293.1:p.Arg550Cys
NM_001322365.2:c.1741C>T	NP_001309294.1:p.Arg581Cys
NM_033496.3:c.1633C>T	NP_277031.1:p.Arg545Cys
NM_033497.3:c.1648C>T	NP_277032.1:p.Arg550Cys
NM_033498.3:c.1648C>T	NP_277033.1:p.Arg550Cys