Canonical Allele Identifier: CA376911717
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69384478A>C , CM000672.2:g.69384478A>C GRCh38
NC_000010.10:g.71144234A>C , CM000672.1:g.71144234A>C GRCh37
NC_000010.9:g.70814240A>C NCBI36
NG_012077.1:g.119479A>C , LRG_365:g.119479A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1716A>C ENSP00000515580.1:p.Glu572Asp
ENST00000703945.1:c.1632A>C ENSP00000515578.1:p.Glu544Asp
ENST00000703946.1:c.1265+4383A>C ENSP00000515579.1:n.1265+4383A>C
ENST00000703947.1:c.1326A>C ENSP00000515581.1:p.Glu442Asp
ENST00000703948.1:c.*1333A>C ENSP00000515582.1:n.*1333A>C
ENST00000703949.1:c.1716A>C ENSP00000515583.1:p.Glu572Asp
ENST00000703950.1:c.1716A>C ENSP00000515584.1:p.Glu572Asp
ENST00000703951.1:c.1265+4383A>C ENSP00000515585.1:n.1265+4383A>C
ENST00000703952.1:c.1265+4383A>C ENSP00000515586.1:n.1265+4383A>C
ENST00000703953.1:c.*979A>C ENSP00000515587.1:n.*979A>C
ENST00000703954.1:c.1596A>C ENSP00000515588.1:p.Glu532Asp
ENST00000703955.1:n.2266A>C
ENST00000703957.1:n.221A>C
ENST00000298649.8:c.1713A>C ENSP00000298649.3:p.Glu571Asp
ENST00000359426.7:c.1716A>C MANE Select ENSP00000352398.6:p.Glu572Asp
ENST00000436817.6:c.1728A>C ENSP00000415949.2:p.Glu576Asp
ENST00000493591.6:c.*1604A>C ENSP00000494917.1:n.*1604A>C
ENST00000643399.2:c.1728A>C MANE Plus Clinical ENSP00000494664.1:p.Glu576Asp
ENST00000298649.7:c.1713A>C ENSP00000298649.3:p.Glu571Asp
ENST00000359426.6:c.1716A>C ENSP00000352398.6:p.Glu572Asp
ENST00000360289.6:c.1680A>C ENSP00000353433.2:p.Glu560Asp
ENST00000448642.6:c.1728A>C ENSP00000402103.3:p.Glu576Asp
ENST00000494253.1:n.1942A>C
NM_000188.2:c.1716A>C NP_000179.2:p.Glu572Asp
NM_033496.2:c.1713A>C NP_277031.1:p.Glu571Asp
NM_033497.2:c.1728A>C NP_277032.1:p.Glu576Asp
NM_033498.2:c.1728A>C NP_277033.1:p.Glu576Asp
NM_033500.2:c.1680A>C , LRG_365t1:c.1680A>C NP_277035.2:p.Glu560Asp
XM_005269735.2:c.1845A>C XP_005269792.1:p.Glu615Asp
XM_005269736.1:c.1728A>C XP_005269793.1:p.Glu576Asp
XM_005269737.1:c.1632A>C XP_005269794.1:p.Glu544Asp
XM_011539732.1:c.1680A>C XP_011538034.1:p.Glu560Asp
XM_011539733.1:c.1674A>C XP_011538035.1:p.Glu558Asp
XM_011539734.1:c.1671A>C XP_011538036.1:p.Glu557Asp
NM_001322364.1:c.1728A>C NP_001309293.1:p.Glu576Asp
NM_001322365.1:c.1821A>C NP_001309294.1:p.Glu607Asp
NM_001322366.1:c.1632A>C NP_001309295.1:p.Glu544Asp
NM_001322367.1:c.1620A>C NP_001309296.1:p.Glu540Asp
NM_001358263.1:c.1728A>C MANE Plus Clinical NP_001345192.1:p.Glu576Asp
XM_024447969.1:c.1728A>C XP_024303737.1:p.Glu576Asp
NM_000188.3:c.1716A>C MANE Select NP_000179.2:p.Glu572Asp
NM_001322364.2:c.1728A>C NP_001309293.1:p.Glu576Asp
NM_001322365.2:c.1821A>C NP_001309294.1:p.Glu607Asp
NM_033496.3:c.1713A>C NP_277031.1:p.Glu571Asp
NM_033497.3:c.1728A>C NP_277032.1:p.Glu576Asp
NM_033498.3:c.1728A>C NP_277033.1:p.Glu576Asp