Canonical Allele Identifier: CA376909627

Gene: HK1

Linked Data

• MyVariant Identifiers: chr10:g.71142307C>T (hg19) ; chr10:g.69382551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382551C>T , CM000672.2:g.69382551C>T	GRCh38
NC_000010.10:g.71142307C>T , CM000672.1:g.71142307C>T	GRCh37
NC_000010.9:g.70812313C>T	NCBI36
NG_012077.1:g.117552C>T , LRG_365:g.117552C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1330C>T	ENSP00000515580.1:p.Leu444Phe
ENST00000703945.1:c.1246C>T	ENSP00000515578.1:p.Leu416Phe
ENST00000703946.1:c.1265+2456C>T	ENSP00000515579.1:n.1265+2456C>T
ENST00000703947.1:c.940C>T	ENSP00000515581.1:p.Leu314Phe
ENST00000703948.1:c.*947C>T	ENSP00000515582.1:n.*947C>T
ENST00000703949.1:c.1330C>T	ENSP00000515583.1:p.Leu444Phe
ENST00000703950.1:c.1330C>T	ENSP00000515584.1:p.Leu444Phe
ENST00000703951.1:c.1265+2456C>T	ENSP00000515585.1:n.1265+2456C>T
ENST00000703952.1:c.1265+2456C>T	ENSP00000515586.1:n.1265+2456C>T
ENST00000703953.1:c.*593C>T	ENSP00000515587.1:n.*593C>T
ENST00000703954.1:c.1210C>T	ENSP00000515588.1:p.Leu404Phe
ENST00000703955.1:n.1880C>T
ENST00000298649.8:c.1327C>T	ENSP00000298649.3:p.Leu443Phe
ENST00000359426.7:c.1330C>T MANE Select	ENSP00000352398.6:p.Leu444Phe
ENST00000436817.6:c.1342C>T	ENSP00000415949.2:p.Leu448Phe
ENST00000493591.6:c.*1218C>T	ENSP00000494917.1:n.*1218C>T
ENST00000643399.2:c.1342C>T MANE Plus Clinical	ENSP00000494664.1:p.Leu448Phe
ENST00000298649.7:c.1327C>T	ENSP00000298649.3:p.Leu443Phe
ENST00000359426.6:c.1330C>T	ENSP00000352398.6:p.Leu444Phe
ENST00000360289.6:c.1294C>T	ENSP00000353433.2:p.Leu432Phe
ENST00000448642.6:c.1342C>T	ENSP00000402103.3:p.Leu448Phe
ENST00000494253.1:n.1556C>T
NM_000188.2:c.1330C>T	NP_000179.2:p.Leu444Phe
NM_033496.2:c.1327C>T	NP_277031.1:p.Leu443Phe
NM_033497.2:c.1342C>T	NP_277032.1:p.Leu448Phe
NM_033498.2:c.1342C>T	NP_277033.1:p.Leu448Phe
NM_033500.2:c.1294C>T , LRG_365t1:c.1294C>T	NP_277035.2:p.Leu432Phe
XM_005269735.2:c.1459C>T	XP_005269792.1:p.Leu487Phe
XM_005269736.1:c.1342C>T	XP_005269793.1:p.Leu448Phe
XM_005269737.1:c.1246C>T	XP_005269794.1:p.Leu416Phe
XM_011539732.1:c.1294C>T	XP_011538034.1:p.Leu432Phe
XM_011539733.1:c.1288C>T	XP_011538035.1:p.Leu430Phe
XM_011539734.1:c.1285C>T	XP_011538036.1:p.Leu429Phe
NM_001322364.1:c.1342C>T	NP_001309293.1:p.Leu448Phe
NM_001322365.1:c.1435C>T	NP_001309294.1:p.Leu479Phe
NM_001322366.1:c.1246C>T	NP_001309295.1:p.Leu416Phe
NM_001322367.1:c.1234C>T	NP_001309296.1:p.Leu412Phe
NM_001358263.1:c.1342C>T MANE Plus Clinical	NP_001345192.1:p.Leu448Phe
XM_024447969.1:c.1342C>T	XP_024303737.1:p.Leu448Phe
NM_000188.3:c.1330C>T MANE Select	NP_000179.2:p.Leu444Phe
NM_001322364.2:c.1342C>T	NP_001309293.1:p.Leu448Phe
NM_001322365.2:c.1435C>T	NP_001309294.1:p.Leu479Phe
NM_033496.3:c.1327C>T	NP_277031.1:p.Leu443Phe
NM_033497.3:c.1342C>T	NP_277032.1:p.Leu448Phe
NM_033498.3:c.1342C>T	NP_277033.1:p.Leu448Phe