Canonical Allele Identifier: CA376909519
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382498G>C , CM000672.2:g.69382498G>C GRCh38
NC_000010.10:g.71142254G>C , CM000672.1:g.71142254G>C GRCh37
NC_000010.9:g.70812260G>C NCBI36
NG_012077.1:g.117499G>C , LRG_365:g.117499G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470050.2:c.1277G>C ENSP00000515580.1:p.Arg426Pro
ENST00000703945.1:c.1193G>C ENSP00000515578.1:p.Arg398Pro
ENST00000703946.1:c.1265+2403G>C ENSP00000515579.1:n.1265+2403G>C
ENST00000703947.1:c.887G>C ENSP00000515581.1:p.Arg296Pro
ENST00000703948.1:c.*894G>C ENSP00000515582.1:n.*894G>C
ENST00000703949.1:c.1277G>C ENSP00000515583.1:p.Arg426Pro
ENST00000703950.1:c.1277G>C ENSP00000515584.1:p.Arg426Pro
ENST00000703951.1:c.1265+2403G>C ENSP00000515585.1:n.1265+2403G>C
ENST00000703952.1:c.1265+2403G>C ENSP00000515586.1:n.1265+2403G>C
ENST00000703953.1:c.*540G>C ENSP00000515587.1:n.*540G>C
ENST00000703954.1:c.1157G>C ENSP00000515588.1:p.Arg386Pro
ENST00000703955.1:n.1827G>C
ENST00000298649.8:c.1274G>C ENSP00000298649.3:p.Arg425Pro
ENST00000359426.7:c.1277G>C MANE Select ENSP00000352398.6:p.Arg426Pro
ENST00000436817.6:c.1289G>C ENSP00000415949.2:p.Arg430Pro
ENST00000493591.6:c.*1165G>C ENSP00000494917.1:n.*1165G>C
ENST00000643399.2:c.1289G>C MANE Plus Clinical ENSP00000494664.1:p.Arg430Pro
ENST00000298649.7:c.1274G>C ENSP00000298649.3:p.Arg425Pro
ENST00000359426.6:c.1277G>C ENSP00000352398.6:p.Arg426Pro
ENST00000360289.6:c.1241G>C ENSP00000353433.2:p.Arg414Pro
ENST00000448642.6:c.1289G>C ENSP00000402103.3:p.Arg430Pro
ENST00000494253.1:n.1503G>C
NM_000188.2:c.1277G>C NP_000179.2:p.Arg426Pro
NM_033496.2:c.1274G>C NP_277031.1:p.Arg425Pro
NM_033497.2:c.1289G>C NP_277032.1:p.Arg430Pro
NM_033498.2:c.1289G>C NP_277033.1:p.Arg430Pro
NM_033500.2:c.1241G>C , LRG_365t1:c.1241G>C NP_277035.2:p.Arg414Pro
XM_005269735.2:c.1406G>C XP_005269792.1:p.Arg469Pro
XM_005269736.1:c.1289G>C XP_005269793.1:p.Arg430Pro
XM_005269737.1:c.1193G>C XP_005269794.1:p.Arg398Pro
XM_011539732.1:c.1241G>C XP_011538034.1:p.Arg414Pro
XM_011539733.1:c.1235G>C XP_011538035.1:p.Arg412Pro
XM_011539734.1:c.1232G>C XP_011538036.1:p.Arg411Pro
NM_001322364.1:c.1289G>C NP_001309293.1:p.Arg430Pro
NM_001322365.1:c.1382G>C NP_001309294.1:p.Arg461Pro
NM_001322366.1:c.1193G>C NP_001309295.1:p.Arg398Pro
NM_001322367.1:c.1181G>C NP_001309296.1:p.Arg394Pro
NM_001358263.1:c.1289G>C MANE Plus Clinical NP_001345192.1:p.Arg430Pro
XM_024447969.1:c.1289G>C XP_024303737.1:p.Arg430Pro
NM_000188.3:c.1277G>C MANE Select NP_000179.2:p.Arg426Pro
NM_001322364.2:c.1289G>C NP_001309293.1:p.Arg430Pro
NM_001322365.2:c.1382G>C NP_001309294.1:p.Arg461Pro
NM_033496.3:c.1274G>C NP_277031.1:p.Arg425Pro
NM_033497.3:c.1289G>C NP_277032.1:p.Arg430Pro
NM_033498.3:c.1289G>C NP_277033.1:p.Arg430Pro