Canonical Allele Identifier: CA5532603

Gene: HK1

Linked Data

• ClinVar Variation Id: 255483
• ClinVar RCV Id: RCV000246647 ; RCV001512136 ; RCV001701886 ; RCV001701885 ; RCV001702379 ; RCV001701954 ; RCV003888654
• dbSNP Id: rs748235
• ExAC: 10:71142420 G / A
• gnomAD v2: 10-71142420-G-A
• gnomAD v3: 10-69382664-G-A
• gnomAD v4: 10-69382664-G-A
• MyVariant Identifiers: chr10:g.71142420G>A (hg19) ; chr10:g.69382664G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382664G>A , CM000672.2:g.69382664G>A	GRCh38
NC_000010.10:g.71142420G>A , CM000672.1:g.71142420G>A	GRCh37
NC_000010.9:g.70812426G>A	NCBI36
NG_012077.1:g.117665G>A , LRG_365:g.117665G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1443G>A	ENSP00000515580.1:p.Lys481=
ENST00000703945.1:c.1359G>A	ENSP00000515578.1:p.Lys453=
ENST00000703946.1:c.1265+2569G>A	ENSP00000515579.1:n.1265+2569G>A
ENST00000703947.1:c.1053G>A	ENSP00000515581.1:p.Lys351=
ENST00000703948.1:c.*1060G>A	ENSP00000515582.1:n.*1060G>A
ENST00000703949.1:c.1443G>A	ENSP00000515583.1:p.Lys481=
ENST00000703950.1:c.1443G>A	ENSP00000515584.1:p.Lys481=
ENST00000703951.1:c.1265+2569G>A	ENSP00000515585.1:n.1265+2569G>A
ENST00000703952.1:c.1265+2569G>A	ENSP00000515586.1:n.1265+2569G>A
ENST00000703953.1:c.*706G>A	ENSP00000515587.1:n.*706G>A
ENST00000703954.1:c.1323G>A	ENSP00000515588.1:p.Lys441=
ENST00000703955.1:n.1993G>A
ENST00000298649.8:c.1440G>A	ENSP00000298649.3:p.Lys480=
ENST00000359426.7:c.1443G>A MANE Select	ENSP00000352398.6:p.Lys481=
ENST00000436817.6:c.1455G>A	ENSP00000415949.2:p.Lys485=
ENST00000493591.6:c.*1331G>A	ENSP00000494917.1:n.*1331G>A
ENST00000643399.2:c.1455G>A MANE Plus Clinical	ENSP00000494664.1:p.Lys485=
ENST00000298649.7:c.1440G>A	ENSP00000298649.3:p.Lys480=
ENST00000359426.6:c.1443G>A	ENSP00000352398.6:p.Lys481=
ENST00000360289.6:c.1407G>A	ENSP00000353433.2:p.Lys469=
ENST00000448642.6:c.1455G>A	ENSP00000402103.3:p.Lys485=
ENST00000494253.1:n.1669G>A
NM_000188.2:c.1443G>A	NP_000179.2:p.Lys481=
NM_033496.2:c.1440G>A	NP_277031.1:p.Lys480=
NM_033497.2:c.1455G>A	NP_277032.1:p.Lys485=
NM_033498.2:c.1455G>A	NP_277033.1:p.Lys485=
NM_033500.2:c.1407G>A , LRG_365t1:c.1407G>A	NP_277035.2:p.Lys469=
XM_005269735.2:c.1572G>A	XP_005269792.1:p.Lys524=
XM_005269736.1:c.1455G>A	XP_005269793.1:p.Lys485=
XM_005269737.1:c.1359G>A	XP_005269794.1:p.Lys453=
XM_011539732.1:c.1407G>A	XP_011538034.1:p.Lys469=
XM_011539733.1:c.1401G>A	XP_011538035.1:p.Lys467=
XM_011539734.1:c.1398G>A	XP_011538036.1:p.Lys466=
NM_001322364.1:c.1455G>A	NP_001309293.1:p.Lys485=
NM_001322365.1:c.1548G>A	NP_001309294.1:p.Lys516=
NM_001322366.1:c.1359G>A	NP_001309295.1:p.Lys453=
NM_001322367.1:c.1347G>A	NP_001309296.1:p.Lys449=
NM_001358263.1:c.1455G>A MANE Plus Clinical	NP_001345192.1:p.Lys485=
XM_024447969.1:c.1455G>A	XP_024303737.1:p.Lys485=
NM_000188.3:c.1443G>A MANE Select	NP_000179.2:p.Lys481=
NM_001322364.2:c.1455G>A	NP_001309293.1:p.Lys485=
NM_001322365.2:c.1548G>A	NP_001309294.1:p.Lys516=
NM_033496.3:c.1440G>A	NP_277031.1:p.Lys480=
NM_033497.3:c.1455G>A	NP_277032.1:p.Lys485=
NM_033498.3:c.1455G>A	NP_277033.1:p.Lys485=