Canonical Allele Identifier: CA376910968
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69384351C>A , CM000672.2:g.69384351C>A GRCh38
NC_000010.10:g.71144107C>A , CM000672.1:g.71144107C>A GRCh37
NC_000010.9:g.70814113C>A NCBI36
NG_012077.1:g.119352C>A , LRG_365:g.119352C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1589C>A ENSP00000515580.1:p.Ala530Asp
ENST00000703945.1:c.1505C>A ENSP00000515578.1:p.Ala502Asp
ENST00000703946.1:c.1265+4256C>A ENSP00000515579.1:n.1265+4256C>A
ENST00000703947.1:c.1199C>A ENSP00000515581.1:p.Ala400Asp
ENST00000703948.1:c.*1206C>A ENSP00000515582.1:n.*1206C>A
ENST00000703949.1:c.1589C>A ENSP00000515583.1:p.Ala530Asp
ENST00000703950.1:c.1589C>A ENSP00000515584.1:p.Ala530Asp
ENST00000703951.1:c.1265+4256C>A ENSP00000515585.1:n.1265+4256C>A
ENST00000703952.1:c.1265+4256C>A ENSP00000515586.1:n.1265+4256C>A
ENST00000703953.1:c.*852C>A ENSP00000515587.1:n.*852C>A
ENST00000703954.1:c.1469C>A ENSP00000515588.1:p.Ala490Asp
ENST00000703955.1:n.2139C>A
ENST00000703957.1:n.94C>A
ENST00000298649.8:c.1586C>A ENSP00000298649.3:p.Ala529Asp
ENST00000359426.7:c.1589C>A MANE Select ENSP00000352398.6:p.Ala530Asp
ENST00000436817.6:c.1601C>A ENSP00000415949.2:p.Ala534Asp
ENST00000493591.6:c.*1477C>A ENSP00000494917.1:n.*1477C>A
ENST00000643399.2:c.1601C>A MANE Plus Clinical ENSP00000494664.1:p.Ala534Asp
ENST00000298649.7:c.1586C>A ENSP00000298649.3:p.Ala529Asp
ENST00000359426.6:c.1589C>A ENSP00000352398.6:p.Ala530Asp
ENST00000360289.6:c.1553C>A ENSP00000353433.2:p.Ala518Asp
ENST00000448642.6:c.1601C>A ENSP00000402103.3:p.Ala534Asp
ENST00000494253.1:n.1815C>A
NM_000188.2:c.1589C>A NP_000179.2:p.Ala530Asp
NM_033496.2:c.1586C>A NP_277031.1:p.Ala529Asp
NM_033497.2:c.1601C>A NP_277032.1:p.Ala534Asp
NM_033498.2:c.1601C>A NP_277033.1:p.Ala534Asp
NM_033500.2:c.1553C>A , LRG_365t1:c.1553C>A NP_277035.2:p.Ala518Asp
XM_005269735.2:c.1718C>A XP_005269792.1:p.Ala573Asp
XM_005269736.1:c.1601C>A XP_005269793.1:p.Ala534Asp
XM_005269737.1:c.1505C>A XP_005269794.1:p.Ala502Asp
XM_011539732.1:c.1553C>A XP_011538034.1:p.Ala518Asp
XM_011539733.1:c.1547C>A XP_011538035.1:p.Ala516Asp
XM_011539734.1:c.1544C>A XP_011538036.1:p.Ala515Asp
NM_001322364.1:c.1601C>A NP_001309293.1:p.Ala534Asp
NM_001322365.1:c.1694C>A NP_001309294.1:p.Ala565Asp
NM_001322366.1:c.1505C>A NP_001309295.1:p.Ala502Asp
NM_001322367.1:c.1493C>A NP_001309296.1:p.Ala498Asp
NM_001358263.1:c.1601C>A MANE Plus Clinical NP_001345192.1:p.Ala534Asp
XM_024447969.1:c.1601C>A XP_024303737.1:p.Ala534Asp
NM_000188.3:c.1589C>A MANE Select NP_000179.2:p.Ala530Asp
NM_001322364.2:c.1601C>A NP_001309293.1:p.Ala534Asp
NM_001322365.2:c.1694C>A NP_001309294.1:p.Ala565Asp
NM_033496.3:c.1586C>A NP_277031.1:p.Ala529Asp
NM_033497.3:c.1601C>A NP_277032.1:p.Ala534Asp
NM_033498.3:c.1601C>A NP_277033.1:p.Ala534Asp