Canonical Allele Identifier: CA376910000

Gene: HK1

Linked Data

• dbSNP Id: rs1475458209
• gnomAD v2: 10-71142446-G-A
• gnomAD v4: 10-69382690-G-A
• MyVariant Identifiers: chr10:g.71142446G>A (hg19) ; chr10:g.69382690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382690G>A , CM000672.2:g.69382690G>A	GRCh38
NC_000010.10:g.71142446G>A , CM000672.1:g.71142446G>A	GRCh37
NC_000010.9:g.70812452G>A	NCBI36
NG_012077.1:g.117691G>A , LRG_365:g.117691G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1469G>A	ENSP00000515580.1:p.Arg490Lys
ENST00000703945.1:c.1385G>A	ENSP00000515578.1:p.Arg462Lys
ENST00000703946.1:c.1265+2595G>A	ENSP00000515579.1:n.1265+2595G>A
ENST00000703947.1:c.1079G>A	ENSP00000515581.1:p.Arg360Lys
ENST00000703948.1:c.*1086G>A	ENSP00000515582.1:n.*1086G>A
ENST00000703949.1:c.1469G>A	ENSP00000515583.1:p.Arg490Lys
ENST00000703950.1:c.1469G>A	ENSP00000515584.1:p.Arg490Lys
ENST00000703951.1:c.1265+2595G>A	ENSP00000515585.1:n.1265+2595G>A
ENST00000703952.1:c.1265+2595G>A	ENSP00000515586.1:n.1265+2595G>A
ENST00000703953.1:c.*732G>A	ENSP00000515587.1:n.*732G>A
ENST00000703954.1:c.1349G>A	ENSP00000515588.1:p.Arg450Lys
ENST00000703955.1:n.2019G>A
ENST00000298649.8:c.1466G>A	ENSP00000298649.3:p.Arg489Lys
ENST00000359426.7:c.1469G>A MANE Select	ENSP00000352398.6:p.Arg490Lys
ENST00000436817.6:c.1481G>A	ENSP00000415949.2:p.Arg494Lys
ENST00000493591.6:c.*1357G>A	ENSP00000494917.1:n.*1357G>A
ENST00000643399.2:c.1481G>A MANE Plus Clinical	ENSP00000494664.1:p.Arg494Lys
ENST00000298649.7:c.1466G>A	ENSP00000298649.3:p.Arg489Lys
ENST00000359426.6:c.1469G>A	ENSP00000352398.6:p.Arg490Lys
ENST00000360289.6:c.1433G>A	ENSP00000353433.2:p.Arg478Lys
ENST00000448642.6:c.1481G>A	ENSP00000402103.3:p.Arg494Lys
ENST00000494253.1:n.1695G>A
NM_000188.2:c.1469G>A	NP_000179.2:p.Arg490Lys
NM_033496.2:c.1466G>A	NP_277031.1:p.Arg489Lys
NM_033497.2:c.1481G>A	NP_277032.1:p.Arg494Lys
NM_033498.2:c.1481G>A	NP_277033.1:p.Arg494Lys
NM_033500.2:c.1433G>A , LRG_365t1:c.1433G>A	NP_277035.2:p.Arg478Lys
XM_005269735.2:c.1598G>A	XP_005269792.1:p.Arg533Lys
XM_005269736.1:c.1481G>A	XP_005269793.1:p.Arg494Lys
XM_005269737.1:c.1385G>A	XP_005269794.1:p.Arg462Lys
XM_011539732.1:c.1433G>A	XP_011538034.1:p.Arg478Lys
XM_011539733.1:c.1427G>A	XP_011538035.1:p.Arg476Lys
XM_011539734.1:c.1424G>A	XP_011538036.1:p.Arg475Lys
NM_001322364.1:c.1481G>A	NP_001309293.1:p.Arg494Lys
NM_001322365.1:c.1574G>A	NP_001309294.1:p.Arg525Lys
NM_001322366.1:c.1385G>A	NP_001309295.1:p.Arg462Lys
NM_001322367.1:c.1373G>A	NP_001309296.1:p.Arg458Lys
NM_001358263.1:c.1481G>A MANE Plus Clinical	NP_001345192.1:p.Arg494Lys
XM_024447969.1:c.1481G>A	XP_024303737.1:p.Arg494Lys
NM_000188.3:c.1469G>A MANE Select	NP_000179.2:p.Arg490Lys
NM_001322364.2:c.1481G>A	NP_001309293.1:p.Arg494Lys
NM_001322365.2:c.1574G>A	NP_001309294.1:p.Arg525Lys
NM_033496.3:c.1466G>A	NP_277031.1:p.Arg489Lys
NM_033497.3:c.1481G>A	NP_277032.1:p.Arg494Lys
NM_033498.3:c.1481G>A	NP_277033.1:p.Arg494Lys