Canonical Allele Identifier: CA5532582
Gene: HK1 HGNC NCBI

Linked Data

dbSNP Id: rs774586043

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382548C>A , CM000672.2:g.69382548C>A GRCh38
NC_000010.10:g.71142304C>A , CM000672.1:g.71142304C>A GRCh37
NC_000010.9:g.70812310C>A NCBI36
NG_012077.1:g.117549C>A , LRG_365:g.117549C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1327C>A ENSP00000515580.1:p.Leu443Ile
ENST00000703945.1:c.1243C>A ENSP00000515578.1:p.Leu415Ile
ENST00000703946.1:c.1265+2453C>A ENSP00000515579.1:n.1265+2453C>A
ENST00000703947.1:c.937C>A ENSP00000515581.1:p.Leu313Ile
ENST00000703948.1:c.*944C>A ENSP00000515582.1:n.*944C>A
ENST00000703949.1:c.1327C>A ENSP00000515583.1:p.Leu443Ile
ENST00000703950.1:c.1327C>A ENSP00000515584.1:p.Leu443Ile
ENST00000703951.1:c.1265+2453C>A ENSP00000515585.1:n.1265+2453C>A
ENST00000703952.1:c.1265+2453C>A ENSP00000515586.1:n.1265+2453C>A
ENST00000703953.1:c.*590C>A ENSP00000515587.1:n.*590C>A
ENST00000703954.1:c.1207C>A ENSP00000515588.1:p.Leu403Ile
ENST00000703955.1:n.1877C>A
ENST00000298649.8:c.1324C>A ENSP00000298649.3:p.Leu442Ile
ENST00000359426.7:c.1327C>A MANE Select ENSP00000352398.6:p.Leu443Ile
ENST00000436817.6:c.1339C>A ENSP00000415949.2:p.Leu447Ile
ENST00000493591.6:c.*1215C>A ENSP00000494917.1:n.*1215C>A
ENST00000643399.2:c.1339C>A MANE Plus Clinical ENSP00000494664.1:p.Leu447Ile
ENST00000298649.7:c.1324C>A ENSP00000298649.3:p.Leu442Ile
ENST00000359426.6:c.1327C>A ENSP00000352398.6:p.Leu443Ile
ENST00000360289.6:c.1291C>A ENSP00000353433.2:p.Leu431Ile
ENST00000448642.6:c.1339C>A ENSP00000402103.3:p.Leu447Ile
ENST00000494253.1:n.1553C>A
NM_000188.2:c.1327C>A NP_000179.2:p.Leu443Ile
NM_033496.2:c.1324C>A NP_277031.1:p.Leu442Ile
NM_033497.2:c.1339C>A NP_277032.1:p.Leu447Ile
NM_033498.2:c.1339C>A NP_277033.1:p.Leu447Ile
NM_033500.2:c.1291C>A , LRG_365t1:c.1291C>A NP_277035.2:p.Leu431Ile
XM_005269735.2:c.1456C>A XP_005269792.1:p.Leu486Ile
XM_005269736.1:c.1339C>A XP_005269793.1:p.Leu447Ile
XM_005269737.1:c.1243C>A XP_005269794.1:p.Leu415Ile
XM_011539732.1:c.1291C>A XP_011538034.1:p.Leu431Ile
XM_011539733.1:c.1285C>A XP_011538035.1:p.Leu429Ile
XM_011539734.1:c.1282C>A XP_011538036.1:p.Leu428Ile
NM_001322364.1:c.1339C>A NP_001309293.1:p.Leu447Ile
NM_001322365.1:c.1432C>A NP_001309294.1:p.Leu478Ile
NM_001322366.1:c.1243C>A NP_001309295.1:p.Leu415Ile
NM_001322367.1:c.1231C>A NP_001309296.1:p.Leu411Ile
NM_001358263.1:c.1339C>A MANE Plus Clinical NP_001345192.1:p.Leu447Ile
XM_024447969.1:c.1339C>A XP_024303737.1:p.Leu447Ile
NM_000188.3:c.1327C>A MANE Select NP_000179.2:p.Leu443Ile
NM_001322364.2:c.1339C>A NP_001309293.1:p.Leu447Ile
NM_001322365.2:c.1432C>A NP_001309294.1:p.Leu478Ile
NM_033496.3:c.1324C>A NP_277031.1:p.Leu442Ile
NM_033497.3:c.1339C>A NP_277032.1:p.Leu447Ile
NM_033498.3:c.1339C>A NP_277033.1:p.Leu447Ile