Canonical Allele Identifier: CA5532621

Gene: HK1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382770C>T , CM000672.2:g.69382770C>T	GRCh38
NC_000010.10:g.71142526C>T , CM000672.1:g.71142526C>T	GRCh37
NC_000010.9:g.70812532C>T	NCBI36
NG_012077.1:g.117771C>T , LRG_365:g.117771C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1549C>T	ENSP00000515580.1:p.Arg517Trp
ENST00000703945.1:c.1465C>T	ENSP00000515578.1:p.Arg489Trp
ENST00000703946.1:c.1265+2675C>T	ENSP00000515579.1:n.1265+2675C>T
ENST00000703947.1:c.1159C>T	ENSP00000515581.1:p.Arg387Trp
ENST00000703948.1:c.*1166C>T	ENSP00000515582.1:n.*1166C>T
ENST00000703949.1:c.1549C>T	ENSP00000515583.1:p.Arg517Trp
ENST00000703950.1:c.1549C>T	ENSP00000515584.1:p.Arg517Trp
ENST00000703951.1:c.1265+2675C>T	ENSP00000515585.1:n.1265+2675C>T
ENST00000703952.1:c.1265+2675C>T	ENSP00000515586.1:n.1265+2675C>T
ENST00000703953.1:c.*812C>T	ENSP00000515587.1:n.*812C>T
ENST00000703954.1:c.1429C>T	ENSP00000515588.1:p.Arg477Trp
ENST00000703955.1:n.2099C>T
ENST00000703957.1:n.54C>T
ENST00000298649.8:c.1546C>T	ENSP00000298649.3:p.Arg516Trp
ENST00000359426.7:c.1549C>T MANE Select	ENSP00000352398.6:p.Arg517Trp
ENST00000436817.6:c.1561C>T	ENSP00000415949.2:p.Arg521Trp
ENST00000493591.6:c.*1437C>T	ENSP00000494917.1:n.*1437C>T
ENST00000643399.2:c.1561C>T MANE Plus Clinical	ENSP00000494664.1:p.Arg521Trp
ENST00000298649.7:c.1546C>T	ENSP00000298649.3:p.Arg516Trp
ENST00000359426.6:c.1549C>T	ENSP00000352398.6:p.Arg517Trp
ENST00000360289.6:c.1513C>T	ENSP00000353433.2:p.Arg505Trp
ENST00000448642.6:c.1561C>T	ENSP00000402103.3:p.Arg521Trp
ENST00000494253.1:n.1775C>T
NM_000188.2:c.1549C>T	NP_000179.2:p.Arg517Trp
NM_033496.2:c.1546C>T	NP_277031.1:p.Arg516Trp
NM_033497.2:c.1561C>T	NP_277032.1:p.Arg521Trp
NM_033498.2:c.1561C>T	NP_277033.1:p.Arg521Trp
NM_033500.2:c.1513C>T , LRG_365t1:c.1513C>T	NP_277035.2:p.Arg505Trp
XM_005269735.2:c.1678C>T	XP_005269792.1:p.Arg560Trp
XM_005269736.1:c.1561C>T	XP_005269793.1:p.Arg521Trp
XM_005269737.1:c.1465C>T	XP_005269794.1:p.Arg489Trp
XM_011539732.1:c.1513C>T	XP_011538034.1:p.Arg505Trp
XM_011539733.1:c.1507C>T	XP_011538035.1:p.Arg503Trp
XM_011539734.1:c.1504C>T	XP_011538036.1:p.Arg502Trp
NM_001322364.1:c.1561C>T	NP_001309293.1:p.Arg521Trp
NM_001322365.1:c.1654C>T	NP_001309294.1:p.Arg552Trp
NM_001322366.1:c.1465C>T	NP_001309295.1:p.Arg489Trp
NM_001322367.1:c.1453C>T	NP_001309296.1:p.Arg485Trp
NM_001358263.1:c.1561C>T MANE Plus Clinical	NP_001345192.1:p.Arg521Trp
XM_024447969.1:c.1561C>T	XP_024303737.1:p.Arg521Trp
NM_000188.3:c.1549C>T MANE Select	NP_000179.2:p.Arg517Trp
NM_001322364.2:c.1561C>T	NP_001309293.1:p.Arg521Trp
NM_001322365.2:c.1654C>T	NP_001309294.1:p.Arg552Trp
NM_033496.3:c.1546C>T	NP_277031.1:p.Arg516Trp
NM_033497.3:c.1561C>T	NP_277032.1:p.Arg521Trp
NM_033498.3:c.1561C>T	NP_277033.1:p.Arg521Trp