Canonical Allele Identifier: CA376909708
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382586G>T , CM000672.2:g.69382586G>T GRCh38
NC_000010.10:g.71142342G>T , CM000672.1:g.71142342G>T GRCh37
NC_000010.9:g.70812348G>T NCBI36
NG_012077.1:g.117587G>T , LRG_365:g.117587G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1365G>T ENSP00000515580.1:p.Met455Ile
ENST00000703945.1:c.1281G>T ENSP00000515578.1:p.Met427Ile
ENST00000703946.1:c.1265+2491G>T ENSP00000515579.1:n.1265+2491G>T
ENST00000703947.1:c.975G>T ENSP00000515581.1:p.Met325Ile
ENST00000703948.1:c.*982G>T ENSP00000515582.1:n.*982G>T
ENST00000703949.1:c.1365G>T ENSP00000515583.1:p.Met455Ile
ENST00000703950.1:c.1365G>T ENSP00000515584.1:p.Met455Ile
ENST00000703951.1:c.1265+2491G>T ENSP00000515585.1:n.1265+2491G>T
ENST00000703952.1:c.1265+2491G>T ENSP00000515586.1:n.1265+2491G>T
ENST00000703953.1:c.*628G>T ENSP00000515587.1:n.*628G>T
ENST00000703954.1:c.1245G>T ENSP00000515588.1:p.Met415Ile
ENST00000703955.1:n.1915G>T
ENST00000298649.8:c.1362G>T ENSP00000298649.3:p.Met454Ile
ENST00000359426.7:c.1365G>T MANE Select ENSP00000352398.6:p.Met455Ile
ENST00000436817.6:c.1377G>T ENSP00000415949.2:p.Met459Ile
ENST00000493591.6:c.*1253G>T ENSP00000494917.1:n.*1253G>T
ENST00000643399.2:c.1377G>T MANE Plus Clinical ENSP00000494664.1:p.Met459Ile
ENST00000298649.7:c.1362G>T ENSP00000298649.3:p.Met454Ile
ENST00000359426.6:c.1365G>T ENSP00000352398.6:p.Met455Ile
ENST00000360289.6:c.1329G>T ENSP00000353433.2:p.Met443Ile
ENST00000448642.6:c.1377G>T ENSP00000402103.3:p.Met459Ile
ENST00000494253.1:n.1591G>T
NM_000188.2:c.1365G>T NP_000179.2:p.Met455Ile
NM_033496.2:c.1362G>T NP_277031.1:p.Met454Ile
NM_033497.2:c.1377G>T NP_277032.1:p.Met459Ile
NM_033498.2:c.1377G>T NP_277033.1:p.Met459Ile
NM_033500.2:c.1329G>T , LRG_365t1:c.1329G>T NP_277035.2:p.Met443Ile
XM_005269735.2:c.1494G>T XP_005269792.1:p.Met498Ile
XM_005269736.1:c.1377G>T XP_005269793.1:p.Met459Ile
XM_005269737.1:c.1281G>T XP_005269794.1:p.Met427Ile
XM_011539732.1:c.1329G>T XP_011538034.1:p.Met443Ile
XM_011539733.1:c.1323G>T XP_011538035.1:p.Met441Ile
XM_011539734.1:c.1320G>T XP_011538036.1:p.Met440Ile
NM_001322364.1:c.1377G>T NP_001309293.1:p.Met459Ile
NM_001322365.1:c.1470G>T NP_001309294.1:p.Met490Ile
NM_001322366.1:c.1281G>T NP_001309295.1:p.Met427Ile
NM_001322367.1:c.1269G>T NP_001309296.1:p.Met423Ile
NM_001358263.1:c.1377G>T MANE Plus Clinical NP_001345192.1:p.Met459Ile
XM_024447969.1:c.1377G>T XP_024303737.1:p.Met459Ile
NM_000188.3:c.1365G>T MANE Select NP_000179.2:p.Met455Ile
NM_001322364.2:c.1377G>T NP_001309293.1:p.Met459Ile
NM_001322365.2:c.1470G>T NP_001309294.1:p.Met490Ile
NM_033496.3:c.1362G>T NP_277031.1:p.Met454Ile
NM_033497.3:c.1377G>T NP_277032.1:p.Met459Ile
NM_033498.3:c.1377G>T NP_277033.1:p.Met459Ile