Canonical Allele Identifier: CA376917768

Gene: HK1

Linked Data

• dbSNP Id: rs1839313241
• gnomAD v3: 10-69380079-T-C
• gnomAD v4: 10-69380079-T-C
• MyVariant Identifiers: chr10:g.71139835T>C (hg19) ; chr10:g.69380079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69380079T>C , CM000672.2:g.69380079T>C	GRCh38
NC_000010.10:g.71139835T>C , CM000672.1:g.71139835T>C	GRCh37
NC_000010.9:g.70809841T>C	NCBI36
NG_012077.1:g.115080T>C , LRG_365:g.115080T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470050.2:c.1249T>C	ENSP00000515580.1:p.Tyr417His
ENST00000703945.1:c.1165T>C	ENSP00000515578.1:p.Tyr389His
ENST00000703946.1:c.1249T>C	ENSP00000515579.1:p.Tyr417His
ENST00000703947.1:c.876-2408T>C	ENSP00000515581.1:n.876-2408T>C
ENST00000703948.1:c.*866T>C	ENSP00000515582.1:n.*866T>C
ENST00000703949.1:c.1249T>C	ENSP00000515583.1:p.Tyr417His
ENST00000703950.1:c.1249T>C	ENSP00000515584.1:p.Tyr417His
ENST00000703951.1:c.1249T>C	ENSP00000515585.1:p.Tyr417His
ENST00000703952.1:c.1249T>C	ENSP00000515586.1:p.Tyr417His
ENST00000703953.1:c.*512T>C	ENSP00000515587.1:n.*512T>C
ENST00000703954.1:c.1129T>C	ENSP00000515588.1:p.Tyr377His
ENST00000703955.1:n.1799T>C
ENST00000298649.8:c.1246T>C	ENSP00000298649.3:p.Tyr416His
ENST00000359426.7:c.1249T>C MANE Select	ENSP00000352398.6:p.Tyr417His
ENST00000436817.6:c.1261T>C	ENSP00000415949.2:p.Tyr421His
ENST00000493591.6:c.*1137T>C	ENSP00000494917.1:n.*1137T>C
ENST00000643399.2:c.1261T>C MANE Plus Clinical	ENSP00000494664.1:p.Tyr421His
ENST00000298649.7:c.1246T>C	ENSP00000298649.3:p.Tyr416His
ENST00000359426.6:c.1249T>C	ENSP00000352398.6:p.Tyr417His
ENST00000360289.6:c.1213T>C	ENSP00000353433.2:p.Tyr405His
ENST00000448642.6:c.1261T>C	ENSP00000402103.3:p.Tyr421His
ENST00000494253.1:n.1475T>C
NM_000188.2:c.1249T>C	NP_000179.2:p.Tyr417His
NM_033496.2:c.1246T>C	NP_277031.1:p.Tyr416His
NM_033497.2:c.1261T>C	NP_277032.1:p.Tyr421His
NM_033498.2:c.1261T>C	NP_277033.1:p.Tyr421His
NM_033500.2:c.1213T>C , LRG_365t1:c.1213T>C	NP_277035.2:p.Tyr405His
XM_005269735.2:c.1378T>C	XP_005269792.1:p.Tyr460His
XM_005269736.1:c.1261T>C	XP_005269793.1:p.Tyr421His
XM_005269737.1:c.1165T>C	XP_005269794.1:p.Tyr389His
XM_011539732.1:c.1213T>C	XP_011538034.1:p.Tyr405His
XM_011539733.1:c.1207T>C	XP_011538035.1:p.Tyr403His
XM_011539734.1:c.1204T>C	XP_011538036.1:p.Tyr402His
NM_001322364.1:c.1261T>C	NP_001309293.1:p.Tyr421His
NM_001322365.1:c.1354T>C	NP_001309294.1:p.Tyr452His
NM_001322366.1:c.1165T>C	NP_001309295.1:p.Tyr389His
NM_001322367.1:c.1153T>C	NP_001309296.1:p.Tyr385His
NM_001358263.1:c.1261T>C MANE Plus Clinical	NP_001345192.1:p.Tyr421His
XM_024447969.1:c.1261T>C	XP_024303737.1:p.Tyr421His
NM_000188.3:c.1249T>C MANE Select	NP_000179.2:p.Tyr417His
NM_001322364.2:c.1261T>C	NP_001309293.1:p.Tyr421His
NM_001322365.2:c.1354T>C	NP_001309294.1:p.Tyr452His
NM_033496.3:c.1246T>C	NP_277031.1:p.Tyr416His
NM_033497.3:c.1261T>C	NP_277032.1:p.Tyr421His
NM_033498.3:c.1261T>C	NP_277033.1:p.Tyr421His