Canonical Allele Identifier: CA376911712

Gene: HK1

Linked Data

• MyVariant Identifiers: chr10:g.71144233A>C (hg19) ; chr10:g.69384477A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69384477A>C , CM000672.2:g.69384477A>C	GRCh38
NC_000010.10:g.71144233A>C , CM000672.1:g.71144233A>C	GRCh37
NC_000010.9:g.70814239A>C	NCBI36
NG_012077.1:g.119478A>C , LRG_365:g.119478A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1715A>C	ENSP00000515580.1:p.Glu572Ala
ENST00000703945.1:c.1631A>C	ENSP00000515578.1:p.Glu544Ala
ENST00000703946.1:c.1265+4382A>C	ENSP00000515579.1:n.1265+4382A>C
ENST00000703947.1:c.1325A>C	ENSP00000515581.1:p.Glu442Ala
ENST00000703948.1:c.*1332A>C	ENSP00000515582.1:n.*1332A>C
ENST00000703949.1:c.1715A>C	ENSP00000515583.1:p.Glu572Ala
ENST00000703950.1:c.1715A>C	ENSP00000515584.1:p.Glu572Ala
ENST00000703951.1:c.1265+4382A>C	ENSP00000515585.1:n.1265+4382A>C
ENST00000703952.1:c.1265+4382A>C	ENSP00000515586.1:n.1265+4382A>C
ENST00000703953.1:c.*978A>C	ENSP00000515587.1:n.*978A>C
ENST00000703954.1:c.1595A>C	ENSP00000515588.1:p.Glu532Ala
ENST00000703955.1:n.2265A>C
ENST00000703957.1:n.220A>C
ENST00000298649.8:c.1712A>C	ENSP00000298649.3:p.Glu571Ala
ENST00000359426.7:c.1715A>C MANE Select	ENSP00000352398.6:p.Glu572Ala
ENST00000436817.6:c.1727A>C	ENSP00000415949.2:p.Glu576Ala
ENST00000493591.6:c.*1603A>C	ENSP00000494917.1:n.*1603A>C
ENST00000643399.2:c.1727A>C MANE Plus Clinical	ENSP00000494664.1:p.Glu576Ala
ENST00000298649.7:c.1712A>C	ENSP00000298649.3:p.Glu571Ala
ENST00000359426.6:c.1715A>C	ENSP00000352398.6:p.Glu572Ala
ENST00000360289.6:c.1679A>C	ENSP00000353433.2:p.Glu560Ala
ENST00000448642.6:c.1727A>C	ENSP00000402103.3:p.Glu576Ala
ENST00000494253.1:n.1941A>C
NM_000188.2:c.1715A>C	NP_000179.2:p.Glu572Ala
NM_033496.2:c.1712A>C	NP_277031.1:p.Glu571Ala
NM_033497.2:c.1727A>C	NP_277032.1:p.Glu576Ala
NM_033498.2:c.1727A>C	NP_277033.1:p.Glu576Ala
NM_033500.2:c.1679A>C , LRG_365t1:c.1679A>C	NP_277035.2:p.Glu560Ala
XM_005269735.2:c.1844A>C	XP_005269792.1:p.Glu615Ala
XM_005269736.1:c.1727A>C	XP_005269793.1:p.Glu576Ala
XM_005269737.1:c.1631A>C	XP_005269794.1:p.Glu544Ala
XM_011539732.1:c.1679A>C	XP_011538034.1:p.Glu560Ala
XM_011539733.1:c.1673A>C	XP_011538035.1:p.Glu558Ala
XM_011539734.1:c.1670A>C	XP_011538036.1:p.Glu557Ala
NM_001322364.1:c.1727A>C	NP_001309293.1:p.Glu576Ala
NM_001322365.1:c.1820A>C	NP_001309294.1:p.Glu607Ala
NM_001322366.1:c.1631A>C	NP_001309295.1:p.Glu544Ala
NM_001322367.1:c.1619A>C	NP_001309296.1:p.Glu540Ala
NM_001358263.1:c.1727A>C MANE Plus Clinical	NP_001345192.1:p.Glu576Ala
XM_024447969.1:c.1727A>C	XP_024303737.1:p.Glu576Ala
NM_000188.3:c.1715A>C MANE Select	NP_000179.2:p.Glu572Ala
NM_001322364.2:c.1727A>C	NP_001309293.1:p.Glu576Ala
NM_001322365.2:c.1820A>C	NP_001309294.1:p.Glu607Ala
NM_033496.3:c.1712A>C	NP_277031.1:p.Glu571Ala
NM_033497.3:c.1727A>C	NP_277032.1:p.Glu576Ala
NM_033498.3:c.1727A>C	NP_277033.1:p.Glu576Ala