Canonical Allele Identifier: CA376909545

Gene: HK1

Linked Data

• gnomAD v4: 10-69382509-A-G
• MyVariant Identifiers: chr10:g.71142265A>G (hg19) ; chr10:g.69382509A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382509A>G , CM000672.2:g.69382509A>G	GRCh38
NC_000010.10:g.71142265A>G , CM000672.1:g.71142265A>G	GRCh37
NC_000010.9:g.70812271A>G	NCBI36
NG_012077.1:g.117510A>G , LRG_365:g.117510A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1288A>G	ENSP00000515580.1:p.Thr430Ala
ENST00000703945.1:c.1204A>G	ENSP00000515578.1:p.Thr402Ala
ENST00000703946.1:c.1265+2414A>G	ENSP00000515579.1:n.1265+2414A>G
ENST00000703947.1:c.898A>G	ENSP00000515581.1:p.Thr300Ala
ENST00000703948.1:c.*905A>G	ENSP00000515582.1:n.*905A>G
ENST00000703949.1:c.1288A>G	ENSP00000515583.1:p.Thr430Ala
ENST00000703950.1:c.1288A>G	ENSP00000515584.1:p.Thr430Ala
ENST00000703951.1:c.1265+2414A>G	ENSP00000515585.1:n.1265+2414A>G
ENST00000703952.1:c.1265+2414A>G	ENSP00000515586.1:n.1265+2414A>G
ENST00000703953.1:c.*551A>G	ENSP00000515587.1:n.*551A>G
ENST00000703954.1:c.1168A>G	ENSP00000515588.1:p.Thr390Ala
ENST00000703955.1:n.1838A>G
ENST00000298649.8:c.1285A>G	ENSP00000298649.3:p.Thr429Ala
ENST00000359426.7:c.1288A>G MANE Select	ENSP00000352398.6:p.Thr430Ala
ENST00000436817.6:c.1300A>G	ENSP00000415949.2:p.Thr434Ala
ENST00000493591.6:c.*1176A>G	ENSP00000494917.1:n.*1176A>G
ENST00000643399.2:c.1300A>G MANE Plus Clinical	ENSP00000494664.1:p.Thr434Ala
ENST00000298649.7:c.1285A>G	ENSP00000298649.3:p.Thr429Ala
ENST00000359426.6:c.1288A>G	ENSP00000352398.6:p.Thr430Ala
ENST00000360289.6:c.1252A>G	ENSP00000353433.2:p.Thr418Ala
ENST00000448642.6:c.1300A>G	ENSP00000402103.3:p.Thr434Ala
ENST00000494253.1:n.1514A>G
NM_000188.2:c.1288A>G	NP_000179.2:p.Thr430Ala
NM_033496.2:c.1285A>G	NP_277031.1:p.Thr429Ala
NM_033497.2:c.1300A>G	NP_277032.1:p.Thr434Ala
NM_033498.2:c.1300A>G	NP_277033.1:p.Thr434Ala
NM_033500.2:c.1252A>G , LRG_365t1:c.1252A>G	NP_277035.2:p.Thr418Ala
XM_005269735.2:c.1417A>G	XP_005269792.1:p.Thr473Ala
XM_005269736.1:c.1300A>G	XP_005269793.1:p.Thr434Ala
XM_005269737.1:c.1204A>G	XP_005269794.1:p.Thr402Ala
XM_011539732.1:c.1252A>G	XP_011538034.1:p.Thr418Ala
XM_011539733.1:c.1246A>G	XP_011538035.1:p.Thr416Ala
XM_011539734.1:c.1243A>G	XP_011538036.1:p.Thr415Ala
NM_001322364.1:c.1300A>G	NP_001309293.1:p.Thr434Ala
NM_001322365.1:c.1393A>G	NP_001309294.1:p.Thr465Ala
NM_001322366.1:c.1204A>G	NP_001309295.1:p.Thr402Ala
NM_001322367.1:c.1192A>G	NP_001309296.1:p.Thr398Ala
NM_001358263.1:c.1300A>G MANE Plus Clinical	NP_001345192.1:p.Thr434Ala
XM_024447969.1:c.1300A>G	XP_024303737.1:p.Thr434Ala
NM_000188.3:c.1288A>G MANE Select	NP_000179.2:p.Thr430Ala
NM_001322364.2:c.1300A>G	NP_001309293.1:p.Thr434Ala
NM_001322365.2:c.1393A>G	NP_001309294.1:p.Thr465Ala
NM_033496.3:c.1285A>G	NP_277031.1:p.Thr429Ala
NM_033497.3:c.1300A>G	NP_277032.1:p.Thr434Ala
NM_033498.3:c.1300A>G	NP_277033.1:p.Thr434Ala