Canonical Allele Identifier: CA376909507

Gene: HK1

Linked Data

• MyVariant Identifiers: chr10:g.71142247T>G (hg19) ; chr10:g.69382491T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382491T>G , CM000672.2:g.69382491T>G	GRCh38
NC_000010.10:g.71142247T>G , CM000672.1:g.71142247T>G	GRCh37
NC_000010.9:g.70812253T>G	NCBI36
NG_012077.1:g.117492T>G , LRG_365:g.117492T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470050.2:c.1270T>G	ENSP00000515580.1:p.Ser424Ala
ENST00000703945.1:c.1186T>G	ENSP00000515578.1:p.Ser396Ala
ENST00000703946.1:c.1265+2396T>G	ENSP00000515579.1:n.1265+2396T>G
ENST00000703947.1:c.880T>G	ENSP00000515581.1:p.Ser294Ala
ENST00000703948.1:c.*887T>G	ENSP00000515582.1:n.*887T>G
ENST00000703949.1:c.1270T>G	ENSP00000515583.1:p.Ser424Ala
ENST00000703950.1:c.1270T>G	ENSP00000515584.1:p.Ser424Ala
ENST00000703951.1:c.1265+2396T>G	ENSP00000515585.1:n.1265+2396T>G
ENST00000703952.1:c.1265+2396T>G	ENSP00000515586.1:n.1265+2396T>G
ENST00000703953.1:c.*533T>G	ENSP00000515587.1:n.*533T>G
ENST00000703954.1:c.1150T>G	ENSP00000515588.1:p.Ser384Ala
ENST00000703955.1:n.1820T>G
ENST00000298649.8:c.1267T>G	ENSP00000298649.3:p.Ser423Ala
ENST00000359426.7:c.1270T>G MANE Select	ENSP00000352398.6:p.Ser424Ala
ENST00000436817.6:c.1282T>G	ENSP00000415949.2:p.Ser428Ala
ENST00000493591.6:c.*1158T>G	ENSP00000494917.1:n.*1158T>G
ENST00000643399.2:c.1282T>G MANE Plus Clinical	ENSP00000494664.1:p.Ser428Ala
ENST00000298649.7:c.1267T>G	ENSP00000298649.3:p.Ser423Ala
ENST00000359426.6:c.1270T>G	ENSP00000352398.6:p.Ser424Ala
ENST00000360289.6:c.1234T>G	ENSP00000353433.2:p.Ser412Ala
ENST00000448642.6:c.1282T>G	ENSP00000402103.3:p.Ser428Ala
ENST00000494253.1:n.1496T>G
NM_000188.2:c.1270T>G	NP_000179.2:p.Ser424Ala
NM_033496.2:c.1267T>G	NP_277031.1:p.Ser423Ala
NM_033497.2:c.1282T>G	NP_277032.1:p.Ser428Ala
NM_033498.2:c.1282T>G	NP_277033.1:p.Ser428Ala
NM_033500.2:c.1234T>G , LRG_365t1:c.1234T>G	NP_277035.2:p.Ser412Ala
XM_005269735.2:c.1399T>G	XP_005269792.1:p.Ser467Ala
XM_005269736.1:c.1282T>G	XP_005269793.1:p.Ser428Ala
XM_005269737.1:c.1186T>G	XP_005269794.1:p.Ser396Ala
XM_011539732.1:c.1234T>G	XP_011538034.1:p.Ser412Ala
XM_011539733.1:c.1228T>G	XP_011538035.1:p.Ser410Ala
XM_011539734.1:c.1225T>G	XP_011538036.1:p.Ser409Ala
NM_001322364.1:c.1282T>G	NP_001309293.1:p.Ser428Ala
NM_001322365.1:c.1375T>G	NP_001309294.1:p.Ser459Ala
NM_001322366.1:c.1186T>G	NP_001309295.1:p.Ser396Ala
NM_001322367.1:c.1174T>G	NP_001309296.1:p.Ser392Ala
NM_001358263.1:c.1282T>G MANE Plus Clinical	NP_001345192.1:p.Ser428Ala
XM_024447969.1:c.1282T>G	XP_024303737.1:p.Ser428Ala
NM_000188.3:c.1270T>G MANE Select	NP_000179.2:p.Ser424Ala
NM_001322364.2:c.1282T>G	NP_001309293.1:p.Ser428Ala
NM_001322365.2:c.1375T>G	NP_001309294.1:p.Ser459Ala
NM_033496.3:c.1267T>G	NP_277031.1:p.Ser423Ala
NM_033497.3:c.1282T>G	NP_277032.1:p.Ser428Ala
NM_033498.3:c.1282T>G	NP_277033.1:p.Ser428Ala