Canonical Allele Identifier: CA376911405

Gene: HK1

Linked Data

• gnomAD v4: 10-69384449-C-G
• MyVariant Identifiers: chr10:g.71144205C>G (hg19) ; chr10:g.69384449C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69384449C>G , CM000672.2:g.69384449C>G	GRCh38
NC_000010.10:g.71144205C>G , CM000672.1:g.71144205C>G	GRCh37
NC_000010.9:g.70814211C>G	NCBI36
NG_012077.1:g.119450C>G , LRG_365:g.119450C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1687C>G	ENSP00000515580.1:p.Pro563Ala
ENST00000703945.1:c.1603C>G	ENSP00000515578.1:p.Pro535Ala
ENST00000703946.1:c.1265+4354C>G	ENSP00000515579.1:n.1265+4354C>G
ENST00000703947.1:c.1297C>G	ENSP00000515581.1:p.Pro433Ala
ENST00000703948.1:c.*1304C>G	ENSP00000515582.1:n.*1304C>G
ENST00000703949.1:c.1687C>G	ENSP00000515583.1:p.Pro563Ala
ENST00000703950.1:c.1687C>G	ENSP00000515584.1:p.Pro563Ala
ENST00000703951.1:c.1265+4354C>G	ENSP00000515585.1:n.1265+4354C>G
ENST00000703952.1:c.1265+4354C>G	ENSP00000515586.1:n.1265+4354C>G
ENST00000703953.1:c.*950C>G	ENSP00000515587.1:n.*950C>G
ENST00000703954.1:c.1567C>G	ENSP00000515588.1:p.Pro523Ala
ENST00000703955.1:n.2237C>G
ENST00000703957.1:n.192C>G
ENST00000298649.8:c.1684C>G	ENSP00000298649.3:p.Pro562Ala
ENST00000359426.7:c.1687C>G MANE Select	ENSP00000352398.6:p.Pro563Ala
ENST00000436817.6:c.1699C>G	ENSP00000415949.2:p.Pro567Ala
ENST00000493591.6:c.*1575C>G	ENSP00000494917.1:n.*1575C>G
ENST00000643399.2:c.1699C>G MANE Plus Clinical	ENSP00000494664.1:p.Pro567Ala
ENST00000298649.7:c.1684C>G	ENSP00000298649.3:p.Pro562Ala
ENST00000359426.6:c.1687C>G	ENSP00000352398.6:p.Pro563Ala
ENST00000360289.6:c.1651C>G	ENSP00000353433.2:p.Pro551Ala
ENST00000448642.6:c.1699C>G	ENSP00000402103.3:p.Pro567Ala
ENST00000494253.1:n.1913C>G
NM_000188.2:c.1687C>G	NP_000179.2:p.Pro563Ala
NM_033496.2:c.1684C>G	NP_277031.1:p.Pro562Ala
NM_033497.2:c.1699C>G	NP_277032.1:p.Pro567Ala
NM_033498.2:c.1699C>G	NP_277033.1:p.Pro567Ala
NM_033500.2:c.1651C>G , LRG_365t1:c.1651C>G	NP_277035.2:p.Pro551Ala
XM_005269735.2:c.1816C>G	XP_005269792.1:p.Pro606Ala
XM_005269736.1:c.1699C>G	XP_005269793.1:p.Pro567Ala
XM_005269737.1:c.1603C>G	XP_005269794.1:p.Pro535Ala
XM_011539732.1:c.1651C>G	XP_011538034.1:p.Pro551Ala
XM_011539733.1:c.1645C>G	XP_011538035.1:p.Pro549Ala
XM_011539734.1:c.1642C>G	XP_011538036.1:p.Pro548Ala
NM_001322364.1:c.1699C>G	NP_001309293.1:p.Pro567Ala
NM_001322365.1:c.1792C>G	NP_001309294.1:p.Pro598Ala
NM_001322366.1:c.1603C>G	NP_001309295.1:p.Pro535Ala
NM_001322367.1:c.1591C>G	NP_001309296.1:p.Pro531Ala
NM_001358263.1:c.1699C>G MANE Plus Clinical	NP_001345192.1:p.Pro567Ala
XM_024447969.1:c.1699C>G	XP_024303737.1:p.Pro567Ala
NM_000188.3:c.1687C>G MANE Select	NP_000179.2:p.Pro563Ala
NM_001322364.2:c.1699C>G	NP_001309293.1:p.Pro567Ala
NM_001322365.2:c.1792C>G	NP_001309294.1:p.Pro598Ala
NM_033496.3:c.1684C>G	NP_277031.1:p.Pro562Ala
NM_033497.3:c.1699C>G	NP_277032.1:p.Pro567Ala
NM_033498.3:c.1699C>G	NP_277033.1:p.Pro567Ala