Canonical Allele Identifier: CA376909638

Gene: HK1

Linked Data

• gnomAD v4: 10-69382557-G-A
• MyVariant Identifiers: chr10:g.71142313G>A (hg19) ; chr10:g.69382557G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382557G>A , CM000672.2:g.69382557G>A	GRCh38
NC_000010.10:g.71142313G>A , CM000672.1:g.71142313G>A	GRCh37
NC_000010.9:g.70812319G>A	NCBI36
NG_012077.1:g.117558G>A , LRG_365:g.117558G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1336G>A	ENSP00000515580.1:p.Glu446Lys
ENST00000703945.1:c.1252G>A	ENSP00000515578.1:p.Glu418Lys
ENST00000703946.1:c.1265+2462G>A	ENSP00000515579.1:n.1265+2462G>A
ENST00000703947.1:c.946G>A	ENSP00000515581.1:p.Glu316Lys
ENST00000703948.1:c.*953G>A	ENSP00000515582.1:n.*953G>A
ENST00000703949.1:c.1336G>A	ENSP00000515583.1:p.Glu446Lys
ENST00000703950.1:c.1336G>A	ENSP00000515584.1:p.Glu446Lys
ENST00000703951.1:c.1265+2462G>A	ENSP00000515585.1:n.1265+2462G>A
ENST00000703952.1:c.1265+2462G>A	ENSP00000515586.1:n.1265+2462G>A
ENST00000703953.1:c.*599G>A	ENSP00000515587.1:n.*599G>A
ENST00000703954.1:c.1216G>A	ENSP00000515588.1:p.Glu406Lys
ENST00000703955.1:n.1886G>A
ENST00000298649.8:c.1333G>A	ENSP00000298649.3:p.Glu445Lys
ENST00000359426.7:c.1336G>A MANE Select	ENSP00000352398.6:p.Glu446Lys
ENST00000436817.6:c.1348G>A	ENSP00000415949.2:p.Glu450Lys
ENST00000493591.6:c.*1224G>A	ENSP00000494917.1:n.*1224G>A
ENST00000643399.2:c.1348G>A MANE Plus Clinical	ENSP00000494664.1:p.Glu450Lys
ENST00000298649.7:c.1333G>A	ENSP00000298649.3:p.Glu445Lys
ENST00000359426.6:c.1336G>A	ENSP00000352398.6:p.Glu446Lys
ENST00000360289.6:c.1300G>A	ENSP00000353433.2:p.Glu434Lys
ENST00000448642.6:c.1348G>A	ENSP00000402103.3:p.Glu450Lys
ENST00000494253.1:n.1562G>A
NM_000188.2:c.1336G>A	NP_000179.2:p.Glu446Lys
NM_033496.2:c.1333G>A	NP_277031.1:p.Glu445Lys
NM_033497.2:c.1348G>A	NP_277032.1:p.Glu450Lys
NM_033498.2:c.1348G>A	NP_277033.1:p.Glu450Lys
NM_033500.2:c.1300G>A , LRG_365t1:c.1300G>A	NP_277035.2:p.Glu434Lys
XM_005269735.2:c.1465G>A	XP_005269792.1:p.Glu489Lys
XM_005269736.1:c.1348G>A	XP_005269793.1:p.Glu450Lys
XM_005269737.1:c.1252G>A	XP_005269794.1:p.Glu418Lys
XM_011539732.1:c.1300G>A	XP_011538034.1:p.Glu434Lys
XM_011539733.1:c.1294G>A	XP_011538035.1:p.Glu432Lys
XM_011539734.1:c.1291G>A	XP_011538036.1:p.Glu431Lys
NM_001322364.1:c.1348G>A	NP_001309293.1:p.Glu450Lys
NM_001322365.1:c.1441G>A	NP_001309294.1:p.Glu481Lys
NM_001322366.1:c.1252G>A	NP_001309295.1:p.Glu418Lys
NM_001322367.1:c.1240G>A	NP_001309296.1:p.Glu414Lys
NM_001358263.1:c.1348G>A MANE Plus Clinical	NP_001345192.1:p.Glu450Lys
XM_024447969.1:c.1348G>A	XP_024303737.1:p.Glu450Lys
NM_000188.3:c.1336G>A MANE Select	NP_000179.2:p.Glu446Lys
NM_001322364.2:c.1348G>A	NP_001309293.1:p.Glu450Lys
NM_001322365.2:c.1441G>A	NP_001309294.1:p.Glu481Lys
NM_033496.3:c.1333G>A	NP_277031.1:p.Glu445Lys
NM_033497.3:c.1348G>A	NP_277032.1:p.Glu450Lys
NM_033498.3:c.1348G>A	NP_277033.1:p.Glu450Lys