Canonical Allele Identifier: CA470276617
Gene: HK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.71142414C>A (hg19)

Genomic Alleles

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

Transcript Alleles

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