Canonical Allele Identifier: CA376909882
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382644G>C , CM000672.2:g.69382644G>C GRCh38
NC_000010.10:g.71142400G>C , CM000672.1:g.71142400G>C GRCh37
NC_000010.9:g.70812406G>C NCBI36
NG_012077.1:g.117645G>C , LRG_365:g.117645G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1423G>C ENSP00000515580.1:p.Ala475Pro
ENST00000703945.1:c.1339G>C ENSP00000515578.1:p.Ala447Pro
ENST00000703946.1:c.1265+2549G>C ENSP00000515579.1:n.1265+2549G>C
ENST00000703947.1:c.1033G>C ENSP00000515581.1:p.Ala345Pro
ENST00000703948.1:c.*1040G>C ENSP00000515582.1:n.*1040G>C
ENST00000703949.1:c.1423G>C ENSP00000515583.1:p.Ala475Pro
ENST00000703950.1:c.1423G>C ENSP00000515584.1:p.Ala475Pro
ENST00000703951.1:c.1265+2549G>C ENSP00000515585.1:n.1265+2549G>C
ENST00000703952.1:c.1265+2549G>C ENSP00000515586.1:n.1265+2549G>C
ENST00000703953.1:c.*686G>C ENSP00000515587.1:n.*686G>C
ENST00000703954.1:c.1303G>C ENSP00000515588.1:p.Ala435Pro
ENST00000703955.1:n.1973G>C
ENST00000298649.8:c.1420G>C ENSP00000298649.3:p.Ala474Pro
ENST00000359426.7:c.1423G>C MANE Select ENSP00000352398.6:p.Ala475Pro
ENST00000436817.6:c.1435G>C ENSP00000415949.2:p.Ala479Pro
ENST00000493591.6:c.*1311G>C ENSP00000494917.1:n.*1311G>C
ENST00000643399.2:c.1435G>C MANE Plus Clinical ENSP00000494664.1:p.Ala479Pro
ENST00000298649.7:c.1420G>C ENSP00000298649.3:p.Ala474Pro
ENST00000359426.6:c.1423G>C ENSP00000352398.6:p.Ala475Pro
ENST00000360289.6:c.1387G>C ENSP00000353433.2:p.Ala463Pro
ENST00000448642.6:c.1435G>C ENSP00000402103.3:p.Ala479Pro
ENST00000494253.1:n.1649G>C
NM_000188.2:c.1423G>C NP_000179.2:p.Ala475Pro
NM_033496.2:c.1420G>C NP_277031.1:p.Ala474Pro
NM_033497.2:c.1435G>C NP_277032.1:p.Ala479Pro
NM_033498.2:c.1435G>C NP_277033.1:p.Ala479Pro
NM_033500.2:c.1387G>C , LRG_365t1:c.1387G>C NP_277035.2:p.Ala463Pro
XM_005269735.2:c.1552G>C XP_005269792.1:p.Ala518Pro
XM_005269736.1:c.1435G>C XP_005269793.1:p.Ala479Pro
XM_005269737.1:c.1339G>C XP_005269794.1:p.Ala447Pro
XM_011539732.1:c.1387G>C XP_011538034.1:p.Ala463Pro
XM_011539733.1:c.1381G>C XP_011538035.1:p.Ala461Pro
XM_011539734.1:c.1378G>C XP_011538036.1:p.Ala460Pro
NM_001322364.1:c.1435G>C NP_001309293.1:p.Ala479Pro
NM_001322365.1:c.1528G>C NP_001309294.1:p.Ala510Pro
NM_001322366.1:c.1339G>C NP_001309295.1:p.Ala447Pro
NM_001322367.1:c.1327G>C NP_001309296.1:p.Ala443Pro
NM_001358263.1:c.1435G>C MANE Plus Clinical NP_001345192.1:p.Ala479Pro
XM_024447969.1:c.1435G>C XP_024303737.1:p.Ala479Pro
NM_000188.3:c.1423G>C MANE Select NP_000179.2:p.Ala475Pro
NM_001322364.2:c.1435G>C NP_001309293.1:p.Ala479Pro
NM_001322365.2:c.1528G>C NP_001309294.1:p.Ala510Pro
NM_033496.3:c.1420G>C NP_277031.1:p.Ala474Pro
NM_033497.3:c.1435G>C NP_277032.1:p.Ala479Pro
NM_033498.3:c.1435G>C NP_277033.1:p.Ala479Pro