Canonical Allele Identifier: CA5532655

Gene: HK1

Linked Data

• dbSNP Id: rs755312877
• ExAC: 10:71144214 A / G
• gnomAD v2: 10-71144214-A-G
• gnomAD v4: 10-69384458-A-G
• MyVariant Identifiers: chr10:g.71144214A>G (hg19) ; chr10:g.69384458A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69384458A>G , CM000672.2:g.69384458A>G	GRCh38
NC_000010.10:g.71144214A>G , CM000672.1:g.71144214A>G	GRCh37
NC_000010.9:g.70814220A>G	NCBI36
NG_012077.1:g.119459A>G , LRG_365:g.119459A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1696A>G	ENSP00000515580.1:p.Ile566Val
ENST00000703945.1:c.1612A>G	ENSP00000515578.1:p.Ile538Val
ENST00000703946.1:c.1265+4363A>G	ENSP00000515579.1:n.1265+4363A>G
ENST00000703947.1:c.1306A>G	ENSP00000515581.1:p.Ile436Val
ENST00000703948.1:c.*1313A>G	ENSP00000515582.1:n.*1313A>G
ENST00000703949.1:c.1696A>G	ENSP00000515583.1:p.Ile566Val
ENST00000703950.1:c.1696A>G	ENSP00000515584.1:p.Ile566Val
ENST00000703951.1:c.1265+4363A>G	ENSP00000515585.1:n.1265+4363A>G
ENST00000703952.1:c.1265+4363A>G	ENSP00000515586.1:n.1265+4363A>G
ENST00000703953.1:c.*959A>G	ENSP00000515587.1:n.*959A>G
ENST00000703954.1:c.1576A>G	ENSP00000515588.1:p.Ile526Val
ENST00000703955.1:n.2246A>G
ENST00000703957.1:n.201A>G
ENST00000298649.8:c.1693A>G	ENSP00000298649.3:p.Ile565Val
ENST00000359426.7:c.1696A>G MANE Select	ENSP00000352398.6:p.Ile566Val
ENST00000436817.6:c.1708A>G	ENSP00000415949.2:p.Ile570Val
ENST00000493591.6:c.*1584A>G	ENSP00000494917.1:n.*1584A>G
ENST00000643399.2:c.1708A>G MANE Plus Clinical	ENSP00000494664.1:p.Ile570Val
ENST00000298649.7:c.1693A>G	ENSP00000298649.3:p.Ile565Val
ENST00000359426.6:c.1696A>G	ENSP00000352398.6:p.Ile566Val
ENST00000360289.6:c.1660A>G	ENSP00000353433.2:p.Ile554Val
ENST00000448642.6:c.1708A>G	ENSP00000402103.3:p.Ile570Val
ENST00000494253.1:n.1922A>G
NM_000188.2:c.1696A>G	NP_000179.2:p.Ile566Val
NM_033496.2:c.1693A>G	NP_277031.1:p.Ile565Val
NM_033497.2:c.1708A>G	NP_277032.1:p.Ile570Val
NM_033498.2:c.1708A>G	NP_277033.1:p.Ile570Val
NM_033500.2:c.1660A>G , LRG_365t1:c.1660A>G	NP_277035.2:p.Ile554Val
XM_005269735.2:c.1825A>G	XP_005269792.1:p.Ile609Val
XM_005269736.1:c.1708A>G	XP_005269793.1:p.Ile570Val
XM_005269737.1:c.1612A>G	XP_005269794.1:p.Ile538Val
XM_011539732.1:c.1660A>G	XP_011538034.1:p.Ile554Val
XM_011539733.1:c.1654A>G	XP_011538035.1:p.Ile552Val
XM_011539734.1:c.1651A>G	XP_011538036.1:p.Ile551Val
NM_001322364.1:c.1708A>G	NP_001309293.1:p.Ile570Val
NM_001322365.1:c.1801A>G	NP_001309294.1:p.Ile601Val
NM_001322366.1:c.1612A>G	NP_001309295.1:p.Ile538Val
NM_001322367.1:c.1600A>G	NP_001309296.1:p.Ile534Val
NM_001358263.1:c.1708A>G MANE Plus Clinical	NP_001345192.1:p.Ile570Val
XM_024447969.1:c.1708A>G	XP_024303737.1:p.Ile570Val
NM_000188.3:c.1696A>G MANE Select	NP_000179.2:p.Ile566Val
NM_001322364.2:c.1708A>G	NP_001309293.1:p.Ile570Val
NM_001322365.2:c.1801A>G	NP_001309294.1:p.Ile601Val
NM_033496.3:c.1693A>G	NP_277031.1:p.Ile565Val
NM_033497.3:c.1708A>G	NP_277032.1:p.Ile570Val
NM_033498.3:c.1708A>G	NP_277033.1:p.Ile570Val