Canonical Allele Identifier: CA16042708

Gene: HK1

Linked Data

• ClinVar Variation Id: 372693
• ClinVar RCV Id: RCV000413860 ; RCV000763213 ; RCV000850129 ; RCV001266327
• dbSNP Id: rs1057517928
• COSMIC: COSM5360235 ; COSM5360236 ; COSM5360237 ; COSM5360238
• MyVariant Identifiers: chr10:g.71142347C>T (hg19) ; chr10:g.69382591C>T (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382591C>T , CM000672.2:g.69382591C>T	GRCh38
NC_000010.10:g.71142347C>T , CM000672.1:g.71142347C>T	GRCh37
NC_000010.9:g.70812353C>T	NCBI36
NG_012077.1:g.117592C>T , LRG_365:g.117592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1370C>T	ENSP00000515580.1:p.Thr457Met
ENST00000703945.1:c.1286C>T	ENSP00000515578.1:p.Thr429Met
ENST00000703946.1:c.1265+2496C>T	ENSP00000515579.1:n.1265+2496C>T
ENST00000703947.1:c.980C>T	ENSP00000515581.1:p.Thr327Met
ENST00000703948.1:c.*987C>T	ENSP00000515582.1:n.*987C>T
ENST00000703949.1:c.1370C>T	ENSP00000515583.1:p.Thr457Met
ENST00000703950.1:c.1370C>T	ENSP00000515584.1:p.Thr457Met
ENST00000703951.1:c.1265+2496C>T	ENSP00000515585.1:n.1265+2496C>T
ENST00000703952.1:c.1265+2496C>T	ENSP00000515586.1:n.1265+2496C>T
ENST00000703953.1:c.*633C>T	ENSP00000515587.1:n.*633C>T
ENST00000703954.1:c.1250C>T	ENSP00000515588.1:p.Thr417Met
ENST00000703955.1:n.1920C>T
ENST00000298649.8:c.1367C>T	ENSP00000298649.3:p.Thr456Met
ENST00000359426.7:c.1370C>T MANE Select	ENSP00000352398.6:p.Thr457Met
ENST00000436817.6:c.1382C>T	ENSP00000415949.2:p.Thr461Met
ENST00000493591.6:c.*1258C>T	ENSP00000494917.1:n.*1258C>T
ENST00000643399.2:c.1382C>T MANE Plus Clinical	ENSP00000494664.1:p.Thr461Met
ENST00000298649.7:c.1367C>T	ENSP00000298649.3:p.Thr456Met
ENST00000359426.6:c.1370C>T	ENSP00000352398.6:p.Thr457Met
ENST00000360289.6:c.1334C>T	ENSP00000353433.2:p.Thr445Met
ENST00000448642.6:c.1382C>T	ENSP00000402103.3:p.Thr461Met
ENST00000494253.1:n.1596C>T
NM_000188.2:c.1370C>T	NP_000179.2:p.Thr457Met
NM_033496.2:c.1367C>T	NP_277031.1:p.Thr456Met
NM_033497.2:c.1382C>T	NP_277032.1:p.Thr461Met
NM_033498.2:c.1382C>T	NP_277033.1:p.Thr461Met
NM_033500.2:c.1334C>T , LRG_365t1:c.1334C>T	NP_277035.2:p.Thr445Met
XM_005269735.2:c.1499C>T	XP_005269792.1:p.Thr500Met
XM_005269736.1:c.1382C>T	XP_005269793.1:p.Thr461Met
XM_005269737.1:c.1286C>T	XP_005269794.1:p.Thr429Met
XM_011539732.1:c.1334C>T	XP_011538034.1:p.Thr445Met
XM_011539733.1:c.1328C>T	XP_011538035.1:p.Thr443Met
XM_011539734.1:c.1325C>T	XP_011538036.1:p.Thr442Met
NM_001322364.1:c.1382C>T	NP_001309293.1:p.Thr461Met
NM_001322365.1:c.1475C>T	NP_001309294.1:p.Thr492Met
NM_001322366.1:c.1286C>T	NP_001309295.1:p.Thr429Met
NM_001322367.1:c.1274C>T	NP_001309296.1:p.Thr425Met
NM_001358263.1:c.1382C>T MANE Plus Clinical	NP_001345192.1:p.Thr461Met
XM_024447969.1:c.1382C>T	XP_024303737.1:p.Thr461Met
NM_000188.3:c.1370C>T MANE Select	NP_000179.2:p.Thr457Met
NM_001322364.2:c.1382C>T	NP_001309293.1:p.Thr461Met
NM_001322365.2:c.1475C>T	NP_001309294.1:p.Thr492Met
NM_033496.3:c.1367C>T	NP_277031.1:p.Thr456Met
NM_033497.3:c.1382C>T	NP_277032.1:p.Thr461Met
NM_033498.3:c.1382C>T	NP_277033.1:p.Thr461Met