Canonical Allele Identifier: CA376909960
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382672T>A , CM000672.2:g.69382672T>A GRCh38
NC_000010.10:g.71142428T>A , CM000672.1:g.71142428T>A GRCh37
NC_000010.9:g.70812434T>A NCBI36
NG_012077.1:g.117673T>A , LRG_365:g.117673T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1451T>A ENSP00000515580.1:p.Leu484Gln
ENST00000703945.1:c.1367T>A ENSP00000515578.1:p.Leu456Gln
ENST00000703946.1:c.1265+2577T>A ENSP00000515579.1:n.1265+2577T>A
ENST00000703947.1:c.1061T>A ENSP00000515581.1:p.Leu354Gln
ENST00000703948.1:c.*1068T>A ENSP00000515582.1:n.*1068T>A
ENST00000703949.1:c.1451T>A ENSP00000515583.1:p.Leu484Gln
ENST00000703950.1:c.1451T>A ENSP00000515584.1:p.Leu484Gln
ENST00000703951.1:c.1265+2577T>A ENSP00000515585.1:n.1265+2577T>A
ENST00000703952.1:c.1265+2577T>A ENSP00000515586.1:n.1265+2577T>A
ENST00000703953.1:c.*714T>A ENSP00000515587.1:n.*714T>A
ENST00000703954.1:c.1331T>A ENSP00000515588.1:p.Leu444Gln
ENST00000703955.1:n.2001T>A
ENST00000298649.8:c.1448T>A ENSP00000298649.3:p.Leu483Gln
ENST00000359426.7:c.1451T>A MANE Select ENSP00000352398.6:p.Leu484Gln
ENST00000436817.6:c.1463T>A ENSP00000415949.2:p.Leu488Gln
ENST00000493591.6:c.*1339T>A ENSP00000494917.1:n.*1339T>A
ENST00000643399.2:c.1463T>A MANE Plus Clinical ENSP00000494664.1:p.Leu488Gln
ENST00000298649.7:c.1448T>A ENSP00000298649.3:p.Leu483Gln
ENST00000359426.6:c.1451T>A ENSP00000352398.6:p.Leu484Gln
ENST00000360289.6:c.1415T>A ENSP00000353433.2:p.Leu472Gln
ENST00000448642.6:c.1463T>A ENSP00000402103.3:p.Leu488Gln
ENST00000494253.1:n.1677T>A
NM_000188.2:c.1451T>A NP_000179.2:p.Leu484Gln
NM_033496.2:c.1448T>A NP_277031.1:p.Leu483Gln
NM_033497.2:c.1463T>A NP_277032.1:p.Leu488Gln
NM_033498.2:c.1463T>A NP_277033.1:p.Leu488Gln
NM_033500.2:c.1415T>A , LRG_365t1:c.1415T>A NP_277035.2:p.Leu472Gln
XM_005269735.2:c.1580T>A XP_005269792.1:p.Leu527Gln
XM_005269736.1:c.1463T>A XP_005269793.1:p.Leu488Gln
XM_005269737.1:c.1367T>A XP_005269794.1:p.Leu456Gln
XM_011539732.1:c.1415T>A XP_011538034.1:p.Leu472Gln
XM_011539733.1:c.1409T>A XP_011538035.1:p.Leu470Gln
XM_011539734.1:c.1406T>A XP_011538036.1:p.Leu469Gln
NM_001322364.1:c.1463T>A NP_001309293.1:p.Leu488Gln
NM_001322365.1:c.1556T>A NP_001309294.1:p.Leu519Gln
NM_001322366.1:c.1367T>A NP_001309295.1:p.Leu456Gln
NM_001322367.1:c.1355T>A NP_001309296.1:p.Leu452Gln
NM_001358263.1:c.1463T>A MANE Plus Clinical NP_001345192.1:p.Leu488Gln
XM_024447969.1:c.1463T>A XP_024303737.1:p.Leu488Gln
NM_000188.3:c.1451T>A MANE Select NP_000179.2:p.Leu484Gln
NM_001322364.2:c.1463T>A NP_001309293.1:p.Leu488Gln
NM_001322365.2:c.1556T>A NP_001309294.1:p.Leu519Gln
NM_033496.3:c.1448T>A NP_277031.1:p.Leu483Gln
NM_033497.3:c.1463T>A NP_277032.1:p.Leu488Gln
NM_033498.3:c.1463T>A NP_277033.1:p.Leu488Gln