Canonical Allele Identifier: CA376911278
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69384407A>T , CM000672.2:g.69384407A>T GRCh38
NC_000010.10:g.71144163A>T , CM000672.1:g.71144163A>T GRCh37
NC_000010.9:g.70814169A>T NCBI36
NG_012077.1:g.119408A>T , LRG_365:g.119408A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1645A>T ENSP00000515580.1:p.Lys549Ter
ENST00000703945.1:c.1561A>T ENSP00000515578.1:p.Lys521Ter
ENST00000703946.1:c.1265+4312A>T ENSP00000515579.1:n.1265+4312A>T
ENST00000703947.1:c.1255A>T ENSP00000515581.1:p.Lys419Ter
ENST00000703948.1:c.*1262A>T ENSP00000515582.1:n.*1262A>T
ENST00000703949.1:c.1645A>T ENSP00000515583.1:p.Lys549Ter
ENST00000703950.1:c.1645A>T ENSP00000515584.1:p.Lys549Ter
ENST00000703951.1:c.1265+4312A>T ENSP00000515585.1:n.1265+4312A>T
ENST00000703952.1:c.1265+4312A>T ENSP00000515586.1:n.1265+4312A>T
ENST00000703953.1:c.*908A>T ENSP00000515587.1:n.*908A>T
ENST00000703954.1:c.1525A>T ENSP00000515588.1:p.Lys509Ter
ENST00000703955.1:n.2195A>T
ENST00000703957.1:n.150A>T
ENST00000298649.8:c.1642A>T ENSP00000298649.3:p.Lys548Ter
ENST00000359426.7:c.1645A>T MANE Select ENSP00000352398.6:p.Lys549Ter
ENST00000436817.6:c.1657A>T ENSP00000415949.2:p.Lys553Ter
ENST00000493591.6:c.*1533A>T ENSP00000494917.1:n.*1533A>T
ENST00000643399.2:c.1657A>T MANE Plus Clinical ENSP00000494664.1:p.Lys553Ter
ENST00000298649.7:c.1642A>T ENSP00000298649.3:p.Lys548Ter
ENST00000359426.6:c.1645A>T ENSP00000352398.6:p.Lys549Ter
ENST00000360289.6:c.1609A>T ENSP00000353433.2:p.Lys537Ter
ENST00000448642.6:c.1657A>T ENSP00000402103.3:p.Lys553Ter
ENST00000494253.1:n.1871A>T
NM_000188.2:c.1645A>T NP_000179.2:p.Lys549Ter
NM_033496.2:c.1642A>T NP_277031.1:p.Lys548Ter
NM_033497.2:c.1657A>T NP_277032.1:p.Lys553Ter
NM_033498.2:c.1657A>T NP_277033.1:p.Lys553Ter
NM_033500.2:c.1609A>T , LRG_365t1:c.1609A>T NP_277035.2:p.Lys537Ter
XM_005269735.2:c.1774A>T XP_005269792.1:p.Lys592Ter
XM_005269736.1:c.1657A>T XP_005269793.1:p.Lys553Ter
XM_005269737.1:c.1561A>T XP_005269794.1:p.Lys521Ter
XM_011539732.1:c.1609A>T XP_011538034.1:p.Lys537Ter
XM_011539733.1:c.1603A>T XP_011538035.1:p.Lys535Ter
XM_011539734.1:c.1600A>T XP_011538036.1:p.Lys534Ter
NM_001322364.1:c.1657A>T NP_001309293.1:p.Lys553Ter
NM_001322365.1:c.1750A>T NP_001309294.1:p.Lys584Ter
NM_001322366.1:c.1561A>T NP_001309295.1:p.Lys521Ter
NM_001322367.1:c.1549A>T NP_001309296.1:p.Lys517Ter
NM_001358263.1:c.1657A>T MANE Plus Clinical NP_001345192.1:p.Lys553Ter
XM_024447969.1:c.1657A>T XP_024303737.1:p.Lys553Ter
NM_000188.3:c.1645A>T MANE Select NP_000179.2:p.Lys549Ter
NM_001322364.2:c.1657A>T NP_001309293.1:p.Lys553Ter
NM_001322365.2:c.1750A>T NP_001309294.1:p.Lys584Ter
NM_033496.3:c.1642A>T NP_277031.1:p.Lys548Ter
NM_033497.3:c.1657A>T NP_277032.1:p.Lys553Ter
NM_033498.3:c.1657A>T NP_277033.1:p.Lys553Ter