Canonical Allele Identifier: CA470276616

Gene: HK1

Linked Data

• gnomAD v4: 10-69382658-C-G
• MyVariant Identifiers: chr10:g.71142414C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382658C>G , CM000672.2:g.69382658C>G	GRCh38
NC_000010.10:g.71142414C>G , CM000672.1:g.71142414C>G	GRCh37
NC_000010.9:g.70812420C>G	NCBI36
NG_012077.1:g.117659C>G , LRG_365:g.117659C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1437C>G	ENSP00000515580.1:p.Leu479=
ENST00000703945.1:c.1353C>G	ENSP00000515578.1:p.Leu451=
ENST00000703946.1:c.1265+2563C>G	ENSP00000515579.1:n.1265+2563C>G
ENST00000703947.1:c.1047C>G	ENSP00000515581.1:p.Leu349=
ENST00000703948.1:c.*1054C>G	ENSP00000515582.1:n.*1054C>G
ENST00000703949.1:c.1437C>G	ENSP00000515583.1:p.Leu479=
ENST00000703950.1:c.1437C>G	ENSP00000515584.1:p.Leu479=
ENST00000703951.1:c.1265+2563C>G	ENSP00000515585.1:n.1265+2563C>G
ENST00000703952.1:c.1265+2563C>G	ENSP00000515586.1:n.1265+2563C>G
ENST00000703953.1:c.*700C>G	ENSP00000515587.1:n.*700C>G
ENST00000703954.1:c.1317C>G	ENSP00000515588.1:p.Leu439=
ENST00000703955.1:n.1987C>G
ENST00000298649.8:c.1434C>G	ENSP00000298649.3:p.Leu478=
ENST00000359426.7:c.1437C>G MANE Select	ENSP00000352398.6:p.Leu479=
ENST00000436817.6:c.1449C>G	ENSP00000415949.2:p.Leu483=
ENST00000493591.6:c.*1325C>G	ENSP00000494917.1:n.*1325C>G
ENST00000643399.2:c.1449C>G MANE Plus Clinical	ENSP00000494664.1:p.Leu483=
ENST00000298649.7:c.1434C>G	ENSP00000298649.3:p.Leu478=
ENST00000359426.6:c.1437C>G	ENSP00000352398.6:p.Leu479=
ENST00000360289.6:c.1401C>G	ENSP00000353433.2:p.Leu467=
ENST00000448642.6:c.1449C>G	ENSP00000402103.3:p.Leu483=
ENST00000494253.1:n.1663C>G
NM_000188.2:c.1437C>G	NP_000179.2:p.Leu479=
NM_033496.2:c.1434C>G	NP_277031.1:p.Leu478=
NM_033497.2:c.1449C>G	NP_277032.1:p.Leu483=
NM_033498.2:c.1449C>G	NP_277033.1:p.Leu483=
NM_033500.2:c.1401C>G , LRG_365t1:c.1401C>G	NP_277035.2:p.Leu467=
XM_005269735.2:c.1566C>G	XP_005269792.1:p.Leu522=
XM_005269736.1:c.1449C>G	XP_005269793.1:p.Leu483=
XM_005269737.1:c.1353C>G	XP_005269794.1:p.Leu451=
XM_011539732.1:c.1401C>G	XP_011538034.1:p.Leu467=
XM_011539733.1:c.1395C>G	XP_011538035.1:p.Leu465=
XM_011539734.1:c.1392C>G	XP_011538036.1:p.Leu464=
NM_001322364.1:c.1449C>G	NP_001309293.1:p.Leu483=
NM_001322365.1:c.1542C>G	NP_001309294.1:p.Leu514=
NM_001322366.1:c.1353C>G	NP_001309295.1:p.Leu451=
NM_001322367.1:c.1341C>G	NP_001309296.1:p.Leu447=
NM_001358263.1:c.1449C>G MANE Plus Clinical	NP_001345192.1:p.Leu483=
XM_024447969.1:c.1449C>G	XP_024303737.1:p.Leu483=
NM_000188.3:c.1437C>G MANE Select	NP_000179.2:p.Leu479=
NM_001322364.2:c.1449C>G	NP_001309293.1:p.Leu483=
NM_001322365.2:c.1542C>G	NP_001309294.1:p.Leu514=
NM_033496.3:c.1434C>G	NP_277031.1:p.Leu478=
NM_033497.3:c.1449C>G	NP_277032.1:p.Leu483=
NM_033498.3:c.1449C>G	NP_277033.1:p.Leu483=