Canonical Allele Identifier: CA376911170

Gene: HK1

Linked Data

• MyVariant Identifiers: chr10:g.71144137T>C (hg19) ; chr10:g.69384381T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69384381T>C , CM000672.2:g.69384381T>C	GRCh38
NC_000010.10:g.71144137T>C , CM000672.1:g.71144137T>C	GRCh37
NC_000010.9:g.70814143T>C	NCBI36
NG_012077.1:g.119382T>C , LRG_365:g.119382T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1619T>C	ENSP00000515580.1:p.Val540Ala
ENST00000703945.1:c.1535T>C	ENSP00000515578.1:p.Val512Ala
ENST00000703946.1:c.1265+4286T>C	ENSP00000515579.1:n.1265+4286T>C
ENST00000703947.1:c.1229T>C	ENSP00000515581.1:p.Val410Ala
ENST00000703948.1:c.*1236T>C	ENSP00000515582.1:n.*1236T>C
ENST00000703949.1:c.1619T>C	ENSP00000515583.1:p.Val540Ala
ENST00000703950.1:c.1619T>C	ENSP00000515584.1:p.Val540Ala
ENST00000703951.1:c.1265+4286T>C	ENSP00000515585.1:n.1265+4286T>C
ENST00000703952.1:c.1265+4286T>C	ENSP00000515586.1:n.1265+4286T>C
ENST00000703953.1:c.*882T>C	ENSP00000515587.1:n.*882T>C
ENST00000703954.1:c.1499T>C	ENSP00000515588.1:p.Val500Ala
ENST00000703955.1:n.2169T>C
ENST00000703957.1:n.124T>C
ENST00000298649.8:c.1616T>C	ENSP00000298649.3:p.Val539Ala
ENST00000359426.7:c.1619T>C MANE Select	ENSP00000352398.6:p.Val540Ala
ENST00000436817.6:c.1631T>C	ENSP00000415949.2:p.Val544Ala
ENST00000493591.6:c.*1507T>C	ENSP00000494917.1:n.*1507T>C
ENST00000643399.2:c.1631T>C MANE Plus Clinical	ENSP00000494664.1:p.Val544Ala
ENST00000298649.7:c.1616T>C	ENSP00000298649.3:p.Val539Ala
ENST00000359426.6:c.1619T>C	ENSP00000352398.6:p.Val540Ala
ENST00000360289.6:c.1583T>C	ENSP00000353433.2:p.Val528Ala
ENST00000448642.6:c.1631T>C	ENSP00000402103.3:p.Val544Ala
ENST00000494253.1:n.1845T>C
NM_000188.2:c.1619T>C	NP_000179.2:p.Val540Ala
NM_033496.2:c.1616T>C	NP_277031.1:p.Val539Ala
NM_033497.2:c.1631T>C	NP_277032.1:p.Val544Ala
NM_033498.2:c.1631T>C	NP_277033.1:p.Val544Ala
NM_033500.2:c.1583T>C , LRG_365t1:c.1583T>C	NP_277035.2:p.Val528Ala
XM_005269735.2:c.1748T>C	XP_005269792.1:p.Val583Ala
XM_005269736.1:c.1631T>C	XP_005269793.1:p.Val544Ala
XM_005269737.1:c.1535T>C	XP_005269794.1:p.Val512Ala
XM_011539732.1:c.1583T>C	XP_011538034.1:p.Val528Ala
XM_011539733.1:c.1577T>C	XP_011538035.1:p.Val526Ala
XM_011539734.1:c.1574T>C	XP_011538036.1:p.Val525Ala
NM_001322364.1:c.1631T>C	NP_001309293.1:p.Val544Ala
NM_001322365.1:c.1724T>C	NP_001309294.1:p.Val575Ala
NM_001322366.1:c.1535T>C	NP_001309295.1:p.Val512Ala
NM_001322367.1:c.1523T>C	NP_001309296.1:p.Val508Ala
NM_001358263.1:c.1631T>C MANE Plus Clinical	NP_001345192.1:p.Val544Ala
XM_024447969.1:c.1631T>C	XP_024303737.1:p.Val544Ala
NM_000188.3:c.1619T>C MANE Select	NP_000179.2:p.Val540Ala
NM_001322364.2:c.1631T>C	NP_001309293.1:p.Val544Ala
NM_001322365.2:c.1724T>C	NP_001309294.1:p.Val575Ala
NM_033496.3:c.1616T>C	NP_277031.1:p.Val539Ala
NM_033497.3:c.1631T>C	NP_277032.1:p.Val544Ala
NM_033498.3:c.1631T>C	NP_277033.1:p.Val544Ala