Canonical Allele Identifier: CA376909830
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382634G>T , CM000672.2:g.69382634G>T GRCh38
NC_000010.10:g.71142390G>T , CM000672.1:g.71142390G>T GRCh37
NC_000010.9:g.70812396G>T NCBI36
NG_012077.1:g.117635G>T , LRG_365:g.117635G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1413G>T ENSP00000515580.1:p.Glu471Asp
ENST00000703945.1:c.1329G>T ENSP00000515578.1:p.Glu443Asp
ENST00000703946.1:c.1265+2539G>T ENSP00000515579.1:n.1265+2539G>T
ENST00000703947.1:c.1023G>T ENSP00000515581.1:p.Glu341Asp
ENST00000703948.1:c.*1030G>T ENSP00000515582.1:n.*1030G>T
ENST00000703949.1:c.1413G>T ENSP00000515583.1:p.Glu471Asp
ENST00000703950.1:c.1413G>T ENSP00000515584.1:p.Glu471Asp
ENST00000703951.1:c.1265+2539G>T ENSP00000515585.1:n.1265+2539G>T
ENST00000703952.1:c.1265+2539G>T ENSP00000515586.1:n.1265+2539G>T
ENST00000703953.1:c.*676G>T ENSP00000515587.1:n.*676G>T
ENST00000703954.1:c.1293G>T ENSP00000515588.1:p.Glu431Asp
ENST00000703955.1:n.1963G>T
ENST00000298649.8:c.1410G>T ENSP00000298649.3:p.Glu470Asp
ENST00000359426.7:c.1413G>T MANE Select ENSP00000352398.6:p.Glu471Asp
ENST00000436817.6:c.1425G>T ENSP00000415949.2:p.Glu475Asp
ENST00000493591.6:c.*1301G>T ENSP00000494917.1:n.*1301G>T
ENST00000643399.2:c.1425G>T MANE Plus Clinical ENSP00000494664.1:p.Glu475Asp
ENST00000298649.7:c.1410G>T ENSP00000298649.3:p.Glu470Asp
ENST00000359426.6:c.1413G>T ENSP00000352398.6:p.Glu471Asp
ENST00000360289.6:c.1377G>T ENSP00000353433.2:p.Glu459Asp
ENST00000448642.6:c.1425G>T ENSP00000402103.3:p.Glu475Asp
ENST00000494253.1:n.1639G>T
NM_000188.2:c.1413G>T NP_000179.2:p.Glu471Asp
NM_033496.2:c.1410G>T NP_277031.1:p.Glu470Asp
NM_033497.2:c.1425G>T NP_277032.1:p.Glu475Asp
NM_033498.2:c.1425G>T NP_277033.1:p.Glu475Asp
NM_033500.2:c.1377G>T , LRG_365t1:c.1377G>T NP_277035.2:p.Glu459Asp
XM_005269735.2:c.1542G>T XP_005269792.1:p.Glu514Asp
XM_005269736.1:c.1425G>T XP_005269793.1:p.Glu475Asp
XM_005269737.1:c.1329G>T XP_005269794.1:p.Glu443Asp
XM_011539732.1:c.1377G>T XP_011538034.1:p.Glu459Asp
XM_011539733.1:c.1371G>T XP_011538035.1:p.Glu457Asp
XM_011539734.1:c.1368G>T XP_011538036.1:p.Glu456Asp
NM_001322364.1:c.1425G>T NP_001309293.1:p.Glu475Asp
NM_001322365.1:c.1518G>T NP_001309294.1:p.Glu506Asp
NM_001322366.1:c.1329G>T NP_001309295.1:p.Glu443Asp
NM_001322367.1:c.1317G>T NP_001309296.1:p.Glu439Asp
NM_001358263.1:c.1425G>T MANE Plus Clinical NP_001345192.1:p.Glu475Asp
XM_024447969.1:c.1425G>T XP_024303737.1:p.Glu475Asp
NM_000188.3:c.1413G>T MANE Select NP_000179.2:p.Glu471Asp
NM_001322364.2:c.1425G>T NP_001309293.1:p.Glu475Asp
NM_001322365.2:c.1518G>T NP_001309294.1:p.Glu506Asp
NM_033496.3:c.1410G>T NP_277031.1:p.Glu470Asp
NM_033497.3:c.1425G>T NP_277032.1:p.Glu475Asp
NM_033498.3:c.1425G>T NP_277033.1:p.Glu475Asp