Canonical Allele Identifier: CA470276594
Gene: HK1 HGNC NCBI

Linked Data

dbSNP Id: rs1280758921

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382748T>A , CM000672.2:g.69382748T>A GRCh38
NC_000010.10:g.71142504T>A , CM000672.1:g.71142504T>A GRCh37
NC_000010.9:g.70812510T>A NCBI36
NG_012077.1:g.117749T>A , LRG_365:g.117749T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1527T>A ENSP00000515580.1:p.Val509=
ENST00000703945.1:c.1443T>A ENSP00000515578.1:p.Val481=
ENST00000703946.1:c.1265+2653T>A ENSP00000515579.1:n.1265+2653T>A
ENST00000703947.1:c.1137T>A ENSP00000515581.1:p.Val379=
ENST00000703948.1:c.*1144T>A ENSP00000515582.1:n.*1144T>A
ENST00000703949.1:c.1527T>A ENSP00000515583.1:p.Val509=
ENST00000703950.1:c.1527T>A ENSP00000515584.1:p.Val509=
ENST00000703951.1:c.1265+2653T>A ENSP00000515585.1:n.1265+2653T>A
ENST00000703952.1:c.1265+2653T>A ENSP00000515586.1:n.1265+2653T>A
ENST00000703953.1:c.*790T>A ENSP00000515587.1:n.*790T>A
ENST00000703954.1:c.1407T>A ENSP00000515588.1:p.Val469=
ENST00000703955.1:n.2077T>A
ENST00000703957.1:n.32T>A
ENST00000298649.8:c.1524T>A ENSP00000298649.3:p.Val508=
ENST00000359426.7:c.1527T>A MANE Select ENSP00000352398.6:p.Val509=
ENST00000436817.6:c.1539T>A ENSP00000415949.2:p.Val513=
ENST00000493591.6:c.*1415T>A ENSP00000494917.1:n.*1415T>A
ENST00000643399.2:c.1539T>A MANE Plus Clinical ENSP00000494664.1:p.Val513=
ENST00000298649.7:c.1524T>A ENSP00000298649.3:p.Val508=
ENST00000359426.6:c.1527T>A ENSP00000352398.6:p.Val509=
ENST00000360289.6:c.1491T>A ENSP00000353433.2:p.Val497=
ENST00000448642.6:c.1539T>A ENSP00000402103.3:p.Val513=
ENST00000494253.1:n.1753T>A
NM_000188.2:c.1527T>A NP_000179.2:p.Val509=
NM_033496.2:c.1524T>A NP_277031.1:p.Val508=
NM_033497.2:c.1539T>A NP_277032.1:p.Val513=
NM_033498.2:c.1539T>A NP_277033.1:p.Val513=
NM_033500.2:c.1491T>A , LRG_365t1:c.1491T>A NP_277035.2:p.Val497=
XM_005269735.2:c.1656T>A XP_005269792.1:p.Val552=
XM_005269736.1:c.1539T>A XP_005269793.1:p.Val513=
XM_005269737.1:c.1443T>A XP_005269794.1:p.Val481=
XM_011539732.1:c.1491T>A XP_011538034.1:p.Val497=
XM_011539733.1:c.1485T>A XP_011538035.1:p.Val495=
XM_011539734.1:c.1482T>A XP_011538036.1:p.Val494=
NM_001322364.1:c.1539T>A NP_001309293.1:p.Val513=
NM_001322365.1:c.1632T>A NP_001309294.1:p.Val544=
NM_001322366.1:c.1443T>A NP_001309295.1:p.Val481=
NM_001322367.1:c.1431T>A NP_001309296.1:p.Val477=
NM_001358263.1:c.1539T>A MANE Plus Clinical NP_001345192.1:p.Val513=
XM_024447969.1:c.1539T>A XP_024303737.1:p.Val513=
NM_000188.3:c.1527T>A MANE Select NP_000179.2:p.Val509=
NM_001322364.2:c.1539T>A NP_001309293.1:p.Val513=
NM_001322365.2:c.1632T>A NP_001309294.1:p.Val544=
NM_033496.3:c.1524T>A NP_277031.1:p.Val508=
NM_033497.3:c.1539T>A NP_277032.1:p.Val513=
NM_033498.3:c.1539T>A NP_277033.1:p.Val513=