Canonical Allele Identifier: CA376909700
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382584A>G , CM000672.2:g.69382584A>G GRCh38
NC_000010.10:g.71142340A>G , CM000672.1:g.71142340A>G GRCh37
NC_000010.9:g.70812346A>G NCBI36
NG_012077.1:g.117585A>G , LRG_365:g.117585A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1363A>G ENSP00000515580.1:p.Met455Val
ENST00000703945.1:c.1279A>G ENSP00000515578.1:p.Met427Val
ENST00000703946.1:c.1265+2489A>G ENSP00000515579.1:n.1265+2489A>G
ENST00000703947.1:c.973A>G ENSP00000515581.1:p.Met325Val
ENST00000703948.1:c.*980A>G ENSP00000515582.1:n.*980A>G
ENST00000703949.1:c.1363A>G ENSP00000515583.1:p.Met455Val
ENST00000703950.1:c.1363A>G ENSP00000515584.1:p.Met455Val
ENST00000703951.1:c.1265+2489A>G ENSP00000515585.1:n.1265+2489A>G
ENST00000703952.1:c.1265+2489A>G ENSP00000515586.1:n.1265+2489A>G
ENST00000703953.1:c.*626A>G ENSP00000515587.1:n.*626A>G
ENST00000703954.1:c.1243A>G ENSP00000515588.1:p.Met415Val
ENST00000703955.1:n.1913A>G
ENST00000298649.8:c.1360A>G ENSP00000298649.3:p.Met454Val
ENST00000359426.7:c.1363A>G MANE Select ENSP00000352398.6:p.Met455Val
ENST00000436817.6:c.1375A>G ENSP00000415949.2:p.Met459Val
ENST00000493591.6:c.*1251A>G ENSP00000494917.1:n.*1251A>G
ENST00000643399.2:c.1375A>G MANE Plus Clinical ENSP00000494664.1:p.Met459Val
ENST00000298649.7:c.1360A>G ENSP00000298649.3:p.Met454Val
ENST00000359426.6:c.1363A>G ENSP00000352398.6:p.Met455Val
ENST00000360289.6:c.1327A>G ENSP00000353433.2:p.Met443Val
ENST00000448642.6:c.1375A>G ENSP00000402103.3:p.Met459Val
ENST00000494253.1:n.1589A>G
NM_000188.2:c.1363A>G NP_000179.2:p.Met455Val
NM_033496.2:c.1360A>G NP_277031.1:p.Met454Val
NM_033497.2:c.1375A>G NP_277032.1:p.Met459Val
NM_033498.2:c.1375A>G NP_277033.1:p.Met459Val
NM_033500.2:c.1327A>G , LRG_365t1:c.1327A>G NP_277035.2:p.Met443Val
XM_005269735.2:c.1492A>G XP_005269792.1:p.Met498Val
XM_005269736.1:c.1375A>G XP_005269793.1:p.Met459Val
XM_005269737.1:c.1279A>G XP_005269794.1:p.Met427Val
XM_011539732.1:c.1327A>G XP_011538034.1:p.Met443Val
XM_011539733.1:c.1321A>G XP_011538035.1:p.Met441Val
XM_011539734.1:c.1318A>G XP_011538036.1:p.Met440Val
NM_001322364.1:c.1375A>G NP_001309293.1:p.Met459Val
NM_001322365.1:c.1468A>G NP_001309294.1:p.Met490Val
NM_001322366.1:c.1279A>G NP_001309295.1:p.Met427Val
NM_001322367.1:c.1267A>G NP_001309296.1:p.Met423Val
NM_001358263.1:c.1375A>G MANE Plus Clinical NP_001345192.1:p.Met459Val
XM_024447969.1:c.1375A>G XP_024303737.1:p.Met459Val
NM_000188.3:c.1363A>G MANE Select NP_000179.2:p.Met455Val
NM_001322364.2:c.1375A>G NP_001309293.1:p.Met459Val
NM_001322365.2:c.1468A>G NP_001309294.1:p.Met490Val
NM_033496.3:c.1360A>G NP_277031.1:p.Met454Val
NM_033497.3:c.1375A>G NP_277032.1:p.Met459Val
NM_033498.3:c.1375A>G NP_277033.1:p.Met459Val