Canonical Allele Identifier: CA376909755
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382609T>G , CM000672.2:g.69382609T>G GRCh38
NC_000010.10:g.71142365T>G , CM000672.1:g.71142365T>G GRCh37
NC_000010.9:g.70812371T>G NCBI36
NG_012077.1:g.117610T>G , LRG_365:g.117610T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1388T>G ENSP00000515580.1:p.Leu463Trp
ENST00000703945.1:c.1304T>G ENSP00000515578.1:p.Leu435Trp
ENST00000703946.1:c.1265+2514T>G ENSP00000515579.1:n.1265+2514T>G
ENST00000703947.1:c.998T>G ENSP00000515581.1:p.Leu333Trp
ENST00000703948.1:c.*1005T>G ENSP00000515582.1:n.*1005T>G
ENST00000703949.1:c.1388T>G ENSP00000515583.1:p.Leu463Trp
ENST00000703950.1:c.1388T>G ENSP00000515584.1:p.Leu463Trp
ENST00000703951.1:c.1265+2514T>G ENSP00000515585.1:n.1265+2514T>G
ENST00000703952.1:c.1265+2514T>G ENSP00000515586.1:n.1265+2514T>G
ENST00000703953.1:c.*651T>G ENSP00000515587.1:n.*651T>G
ENST00000703954.1:c.1268T>G ENSP00000515588.1:p.Leu423Trp
ENST00000703955.1:n.1938T>G
ENST00000298649.8:c.1385T>G ENSP00000298649.3:p.Leu462Trp
ENST00000359426.7:c.1388T>G MANE Select ENSP00000352398.6:p.Leu463Trp
ENST00000436817.6:c.1400T>G ENSP00000415949.2:p.Leu467Trp
ENST00000493591.6:c.*1276T>G ENSP00000494917.1:n.*1276T>G
ENST00000643399.2:c.1400T>G MANE Plus Clinical ENSP00000494664.1:p.Leu467Trp
ENST00000298649.7:c.1385T>G ENSP00000298649.3:p.Leu462Trp
ENST00000359426.6:c.1388T>G ENSP00000352398.6:p.Leu463Trp
ENST00000360289.6:c.1352T>G ENSP00000353433.2:p.Leu451Trp
ENST00000448642.6:c.1400T>G ENSP00000402103.3:p.Leu467Trp
ENST00000494253.1:n.1614T>G
NM_000188.2:c.1388T>G NP_000179.2:p.Leu463Trp
NM_033496.2:c.1385T>G NP_277031.1:p.Leu462Trp
NM_033497.2:c.1400T>G NP_277032.1:p.Leu467Trp
NM_033498.2:c.1400T>G NP_277033.1:p.Leu467Trp
NM_033500.2:c.1352T>G , LRG_365t1:c.1352T>G NP_277035.2:p.Leu451Trp
XM_005269735.2:c.1517T>G XP_005269792.1:p.Leu506Trp
XM_005269736.1:c.1400T>G XP_005269793.1:p.Leu467Trp
XM_005269737.1:c.1304T>G XP_005269794.1:p.Leu435Trp
XM_011539732.1:c.1352T>G XP_011538034.1:p.Leu451Trp
XM_011539733.1:c.1346T>G XP_011538035.1:p.Leu449Trp
XM_011539734.1:c.1343T>G XP_011538036.1:p.Leu448Trp
NM_001322364.1:c.1400T>G NP_001309293.1:p.Leu467Trp
NM_001322365.1:c.1493T>G NP_001309294.1:p.Leu498Trp
NM_001322366.1:c.1304T>G NP_001309295.1:p.Leu435Trp
NM_001322367.1:c.1292T>G NP_001309296.1:p.Leu431Trp
NM_001358263.1:c.1400T>G MANE Plus Clinical NP_001345192.1:p.Leu467Trp
XM_024447969.1:c.1400T>G XP_024303737.1:p.Leu467Trp
NM_000188.3:c.1388T>G MANE Select NP_000179.2:p.Leu463Trp
NM_001322364.2:c.1400T>G NP_001309293.1:p.Leu467Trp
NM_001322365.2:c.1493T>G NP_001309294.1:p.Leu498Trp
NM_033496.3:c.1385T>G NP_277031.1:p.Leu462Trp
NM_033497.3:c.1400T>G NP_277032.1:p.Leu467Trp
NM_033498.3:c.1400T>G NP_277033.1:p.Leu467Trp