Canonical Allele Identifier: CA1917772156

Gene: HK1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382641C= , CM000672.2:g.69382641C=	GRCh38
NC_000010.10:g.71142397C= , CM000672.1:g.71142397C=	GRCh37
NC_000010.9:g.70812403C=	NCBI36
NG_012077.1:g.117642C= , LRG_365:g.117642C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1420C=	ENSP00000515580.1:p.Leu474=
ENST00000703945.1:c.1336C=	ENSP00000515578.1:p.Leu446=
ENST00000703946.1:c.1265+2546C=	ENSP00000515579.1:n.1265+2546C=
ENST00000703947.1:c.1030C=	ENSP00000515581.1:p.Leu344=
ENST00000703948.1:c.*1037C=	ENSP00000515582.1:n.*1037C=
ENST00000703949.1:c.1420C=	ENSP00000515583.1:p.Leu474=
ENST00000703950.1:c.1420C=	ENSP00000515584.1:p.Leu474=
ENST00000703951.1:c.1265+2546C=	ENSP00000515585.1:n.1265+2546C=
ENST00000703952.1:c.1265+2546C=	ENSP00000515586.1:n.1265+2546C=
ENST00000703953.1:c.*683C=	ENSP00000515587.1:n.*683C=
ENST00000703954.1:c.1300C=	ENSP00000515588.1:p.Leu434=
ENST00000703955.1:n.1970C=
ENST00000298649.8:c.1417C=	ENSP00000298649.3:p.Leu473=
ENST00000359426.7:c.1420C= MANE Select	ENSP00000352398.6:p.Leu474=
ENST00000436817.6:c.1432C=	ENSP00000415949.2:p.Leu478=
ENST00000493591.6:c.*1308C=	ENSP00000494917.1:n.*1308C=
ENST00000643399.2:c.1432C= MANE Plus Clinical	ENSP00000494664.1:p.Leu478=
ENST00000298649.7:c.1417C=	ENSP00000298649.3:p.Leu473=
ENST00000359426.6:c.1420C=	ENSP00000352398.6:p.Leu474=
ENST00000360289.6:c.1384C=	ENSP00000353433.2:p.Leu462=
ENST00000448642.6:c.1432C=	ENSP00000402103.3:p.Leu478=
ENST00000494253.1:n.1646C=
NM_000188.2:c.1420C=	NP_000179.2:p.Leu474=
NM_033496.2:c.1417C=	NP_277031.1:p.Leu473=
NM_033497.2:c.1432C=	NP_277032.1:p.Leu478=
NM_033498.2:c.1432C=	NP_277033.1:p.Leu478=
NM_033500.2:c.1384C= , LRG_365t1:c.1384C=	NP_277035.2:p.Leu462=
XM_005269735.2:c.1549C=	XP_005269792.1:p.Leu517=
XM_005269736.1:c.1432C=	XP_005269793.1:p.Leu478=
XM_005269737.1:c.1336C=	XP_005269794.1:p.Leu446=
XM_011539732.1:c.1384C=	XP_011538034.1:p.Leu462=
XM_011539733.1:c.1378C=	XP_011538035.1:p.Leu460=
XM_011539734.1:c.1375C=	XP_011538036.1:p.Leu459=
NM_001322364.1:c.1432C=	NP_001309293.1:p.Leu478=
NM_001322365.1:c.1525C=	NP_001309294.1:p.Leu509=
NM_001322366.1:c.1336C=	NP_001309295.1:p.Leu446=
NM_001322367.1:c.1324C=	NP_001309296.1:p.Leu442=
NM_001358263.1:c.1432C= MANE Plus Clinical	NP_001345192.1:p.Leu478=
XM_024447969.1:c.1432C=	XP_024303737.1:p.Leu478=
NM_000188.3:c.1420C= MANE Select	NP_000179.2:p.Leu474=
NM_001322364.2:c.1432C=	NP_001309293.1:p.Leu478=
NM_001322365.2:c.1525C=	NP_001309294.1:p.Leu509=
NM_033496.3:c.1417C=	NP_277031.1:p.Leu473=
NM_033497.3:c.1432C=	NP_277032.1:p.Leu478=
NM_033498.3:c.1432C=	NP_277033.1:p.Leu478=