Canonical Allele Identifier: CA376909723
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382594C>G , CM000672.2:g.69382594C>G GRCh38
NC_000010.10:g.71142350C>G , CM000672.1:g.71142350C>G GRCh37
NC_000010.9:g.70812356C>G NCBI36
NG_012077.1:g.117595C>G , LRG_365:g.117595C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000470050.2:c.1373C>G ENSP00000515580.1:p.Ala458Gly
ENST00000703945.1:c.1289C>G ENSP00000515578.1:p.Ala430Gly
ENST00000703946.1:c.1265+2499C>G ENSP00000515579.1:n.1265+2499C>G
ENST00000703947.1:c.983C>G ENSP00000515581.1:p.Ala328Gly
ENST00000703948.1:c.*990C>G ENSP00000515582.1:n.*990C>G
ENST00000703949.1:c.1373C>G ENSP00000515583.1:p.Ala458Gly
ENST00000703950.1:c.1373C>G ENSP00000515584.1:p.Ala458Gly
ENST00000703951.1:c.1265+2499C>G ENSP00000515585.1:n.1265+2499C>G
ENST00000703952.1:c.1265+2499C>G ENSP00000515586.1:n.1265+2499C>G
ENST00000703953.1:c.*636C>G ENSP00000515587.1:n.*636C>G
ENST00000703954.1:c.1253C>G ENSP00000515588.1:p.Ala418Gly
ENST00000703955.1:n.1923C>G
ENST00000298649.8:c.1370C>G ENSP00000298649.3:p.Ala457Gly
ENST00000359426.7:c.1373C>G MANE Select ENSP00000352398.6:p.Ala458Gly
ENST00000436817.6:c.1385C>G ENSP00000415949.2:p.Ala462Gly
ENST00000493591.6:c.*1261C>G ENSP00000494917.1:n.*1261C>G
ENST00000643399.2:c.1385C>G MANE Plus Clinical ENSP00000494664.1:p.Ala462Gly
ENST00000298649.7:c.1370C>G ENSP00000298649.3:p.Ala457Gly
ENST00000359426.6:c.1373C>G ENSP00000352398.6:p.Ala458Gly
ENST00000360289.6:c.1337C>G ENSP00000353433.2:p.Ala446Gly
ENST00000448642.6:c.1385C>G ENSP00000402103.3:p.Ala462Gly
ENST00000494253.1:n.1599C>G
NM_000188.2:c.1373C>G NP_000179.2:p.Ala458Gly
NM_033496.2:c.1370C>G NP_277031.1:p.Ala457Gly
NM_033497.2:c.1385C>G NP_277032.1:p.Ala462Gly
NM_033498.2:c.1385C>G NP_277033.1:p.Ala462Gly
NM_033500.2:c.1337C>G , LRG_365t1:c.1337C>G NP_277035.2:p.Ala446Gly
XM_005269735.2:c.1502C>G XP_005269792.1:p.Ala501Gly
XM_005269736.1:c.1385C>G XP_005269793.1:p.Ala462Gly
XM_005269737.1:c.1289C>G XP_005269794.1:p.Ala430Gly
XM_011539732.1:c.1337C>G XP_011538034.1:p.Ala446Gly
XM_011539733.1:c.1331C>G XP_011538035.1:p.Ala444Gly
XM_011539734.1:c.1328C>G XP_011538036.1:p.Ala443Gly
NM_001322364.1:c.1385C>G NP_001309293.1:p.Ala462Gly
NM_001322365.1:c.1478C>G NP_001309294.1:p.Ala493Gly
NM_001322366.1:c.1289C>G NP_001309295.1:p.Ala430Gly
NM_001322367.1:c.1277C>G NP_001309296.1:p.Ala426Gly
NM_001358263.1:c.1385C>G MANE Plus Clinical NP_001345192.1:p.Ala462Gly
XM_024447969.1:c.1385C>G XP_024303737.1:p.Ala462Gly
NM_000188.3:c.1373C>G MANE Select NP_000179.2:p.Ala458Gly
NM_001322364.2:c.1385C>G NP_001309293.1:p.Ala462Gly
NM_001322365.2:c.1478C>G NP_001309294.1:p.Ala493Gly
NM_033496.3:c.1370C>G NP_277031.1:p.Ala457Gly
NM_033497.3:c.1385C>G NP_277032.1:p.Ala462Gly
NM_033498.3:c.1385C>G NP_277033.1:p.Ala462Gly