Canonical Allele Identifier: CA376909603
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382538T>G , CM000672.2:g.69382538T>G GRCh38
NC_000010.10:g.71142294T>G , CM000672.1:g.71142294T>G GRCh37
NC_000010.9:g.70812300T>G NCBI36
NG_012077.1:g.117539T>G , LRG_365:g.117539T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1317T>G ENSP00000515580.1:p.Asp439Glu
ENST00000703945.1:c.1233T>G ENSP00000515578.1:p.Asp411Glu
ENST00000703946.1:c.1265+2443T>G ENSP00000515579.1:n.1265+2443T>G
ENST00000703947.1:c.927T>G ENSP00000515581.1:p.Asp309Glu
ENST00000703948.1:c.*934T>G ENSP00000515582.1:n.*934T>G
ENST00000703949.1:c.1317T>G ENSP00000515583.1:p.Asp439Glu
ENST00000703950.1:c.1317T>G ENSP00000515584.1:p.Asp439Glu
ENST00000703951.1:c.1265+2443T>G ENSP00000515585.1:n.1265+2443T>G
ENST00000703952.1:c.1265+2443T>G ENSP00000515586.1:n.1265+2443T>G
ENST00000703953.1:c.*580T>G ENSP00000515587.1:n.*580T>G
ENST00000703954.1:c.1197T>G ENSP00000515588.1:p.Asp399Glu
ENST00000703955.1:n.1867T>G
ENST00000298649.8:c.1314T>G ENSP00000298649.3:p.Asp438Glu
ENST00000359426.7:c.1317T>G MANE Select ENSP00000352398.6:p.Asp439Glu
ENST00000436817.6:c.1329T>G ENSP00000415949.2:p.Asp443Glu
ENST00000493591.6:c.*1205T>G ENSP00000494917.1:n.*1205T>G
ENST00000643399.2:c.1329T>G MANE Plus Clinical ENSP00000494664.1:p.Asp443Glu
ENST00000298649.7:c.1314T>G ENSP00000298649.3:p.Asp438Glu
ENST00000359426.6:c.1317T>G ENSP00000352398.6:p.Asp439Glu
ENST00000360289.6:c.1281T>G ENSP00000353433.2:p.Asp427Glu
ENST00000448642.6:c.1329T>G ENSP00000402103.3:p.Asp443Glu
ENST00000494253.1:n.1543T>G
NM_000188.2:c.1317T>G NP_000179.2:p.Asp439Glu
NM_033496.2:c.1314T>G NP_277031.1:p.Asp438Glu
NM_033497.2:c.1329T>G NP_277032.1:p.Asp443Glu
NM_033498.2:c.1329T>G NP_277033.1:p.Asp443Glu
NM_033500.2:c.1281T>G , LRG_365t1:c.1281T>G NP_277035.2:p.Asp427Glu
XM_005269735.2:c.1446T>G XP_005269792.1:p.Asp482Glu
XM_005269736.1:c.1329T>G XP_005269793.1:p.Asp443Glu
XM_005269737.1:c.1233T>G XP_005269794.1:p.Asp411Glu
XM_011539732.1:c.1281T>G XP_011538034.1:p.Asp427Glu
XM_011539733.1:c.1275T>G XP_011538035.1:p.Asp425Glu
XM_011539734.1:c.1272T>G XP_011538036.1:p.Asp424Glu
NM_001322364.1:c.1329T>G NP_001309293.1:p.Asp443Glu
NM_001322365.1:c.1422T>G NP_001309294.1:p.Asp474Glu
NM_001322366.1:c.1233T>G NP_001309295.1:p.Asp411Glu
NM_001322367.1:c.1221T>G NP_001309296.1:p.Asp407Glu
NM_001358263.1:c.1329T>G MANE Plus Clinical NP_001345192.1:p.Asp443Glu
XM_024447969.1:c.1329T>G XP_024303737.1:p.Asp443Glu
NM_000188.3:c.1317T>G MANE Select NP_000179.2:p.Asp439Glu
NM_001322364.2:c.1329T>G NP_001309293.1:p.Asp443Glu
NM_001322365.2:c.1422T>G NP_001309294.1:p.Asp474Glu
NM_033496.3:c.1314T>G NP_277031.1:p.Asp438Glu
NM_033497.3:c.1329T>G NP_277032.1:p.Asp443Glu
NM_033498.3:c.1329T>G NP_277033.1:p.Asp443Glu