Canonical Allele Identifier: CA376909919

Gene: HK1

Linked Data

• gnomAD v4: 10-69382654-A-T
• MyVariant Identifiers: chr10:g.71142410A>T (hg19) ; chr10:g.69382654A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382654A>T , CM000672.2:g.69382654A>T	GRCh38
NC_000010.10:g.71142410A>T , CM000672.1:g.71142410A>T	GRCh37
NC_000010.9:g.70812416A>T	NCBI36
NG_012077.1:g.117655A>T , LRG_365:g.117655A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1433A>T	ENSP00000515580.1:p.His478Leu
ENST00000703945.1:c.1349A>T	ENSP00000515578.1:p.His450Leu
ENST00000703946.1:c.1265+2559A>T	ENSP00000515579.1:n.1265+2559A>T
ENST00000703947.1:c.1043A>T	ENSP00000515581.1:p.His348Leu
ENST00000703948.1:c.*1050A>T	ENSP00000515582.1:n.*1050A>T
ENST00000703949.1:c.1433A>T	ENSP00000515583.1:p.His478Leu
ENST00000703950.1:c.1433A>T	ENSP00000515584.1:p.His478Leu
ENST00000703951.1:c.1265+2559A>T	ENSP00000515585.1:n.1265+2559A>T
ENST00000703952.1:c.1265+2559A>T	ENSP00000515586.1:n.1265+2559A>T
ENST00000703953.1:c.*696A>T	ENSP00000515587.1:n.*696A>T
ENST00000703954.1:c.1313A>T	ENSP00000515588.1:p.His438Leu
ENST00000703955.1:n.1983A>T
ENST00000298649.8:c.1430A>T	ENSP00000298649.3:p.His477Leu
ENST00000359426.7:c.1433A>T MANE Select	ENSP00000352398.6:p.His478Leu
ENST00000436817.6:c.1445A>T	ENSP00000415949.2:p.His482Leu
ENST00000493591.6:c.*1321A>T	ENSP00000494917.1:n.*1321A>T
ENST00000643399.2:c.1445A>T MANE Plus Clinical	ENSP00000494664.1:p.His482Leu
ENST00000298649.7:c.1430A>T	ENSP00000298649.3:p.His477Leu
ENST00000359426.6:c.1433A>T	ENSP00000352398.6:p.His478Leu
ENST00000360289.6:c.1397A>T	ENSP00000353433.2:p.His466Leu
ENST00000448642.6:c.1445A>T	ENSP00000402103.3:p.His482Leu
ENST00000494253.1:n.1659A>T
NM_000188.2:c.1433A>T	NP_000179.2:p.His478Leu
NM_033496.2:c.1430A>T	NP_277031.1:p.His477Leu
NM_033497.2:c.1445A>T	NP_277032.1:p.His482Leu
NM_033498.2:c.1445A>T	NP_277033.1:p.His482Leu
NM_033500.2:c.1397A>T , LRG_365t1:c.1397A>T	NP_277035.2:p.His466Leu
XM_005269735.2:c.1562A>T	XP_005269792.1:p.His521Leu
XM_005269736.1:c.1445A>T	XP_005269793.1:p.His482Leu
XM_005269737.1:c.1349A>T	XP_005269794.1:p.His450Leu
XM_011539732.1:c.1397A>T	XP_011538034.1:p.His466Leu
XM_011539733.1:c.1391A>T	XP_011538035.1:p.His464Leu
XM_011539734.1:c.1388A>T	XP_011538036.1:p.His463Leu
NM_001322364.1:c.1445A>T	NP_001309293.1:p.His482Leu
NM_001322365.1:c.1538A>T	NP_001309294.1:p.His513Leu
NM_001322366.1:c.1349A>T	NP_001309295.1:p.His450Leu
NM_001322367.1:c.1337A>T	NP_001309296.1:p.His446Leu
NM_001358263.1:c.1445A>T MANE Plus Clinical	NP_001345192.1:p.His482Leu
XM_024447969.1:c.1445A>T	XP_024303737.1:p.His482Leu
NM_000188.3:c.1433A>T MANE Select	NP_000179.2:p.His478Leu
NM_001322364.2:c.1445A>T	NP_001309293.1:p.His482Leu
NM_001322365.2:c.1538A>T	NP_001309294.1:p.His513Leu
NM_033496.3:c.1430A>T	NP_277031.1:p.His477Leu
NM_033497.3:c.1445A>T	NP_277032.1:p.His482Leu
NM_033498.3:c.1445A>T	NP_277033.1:p.His482Leu