Canonical Allele Identifier: CA376909496

Gene: HK1

Linked Data

• MyVariant Identifiers: chr10:g.71142243G>C (hg19) ; chr10:g.69382487G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382487G>C , CM000672.2:g.69382487G>C	GRCh38
NC_000010.10:g.71142243G>C , CM000672.1:g.71142243G>C	GRCh37
NC_000010.9:g.70812249G>C	NCBI36
NG_012077.1:g.117488G>C , LRG_365:g.117488G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1266G>C	ENSP00000515580.1:p.Gln422His
ENST00000703945.1:c.1182G>C	ENSP00000515578.1:p.Gln394His
ENST00000703946.1:c.1265+2392G>C	ENSP00000515579.1:n.1265+2392G>C
ENST00000703947.1:c.876G>C	ENSP00000515581.1:p.Leu292=
ENST00000703948.1:c.*883G>C	ENSP00000515582.1:n.*883G>C
ENST00000703949.1:c.1266G>C	ENSP00000515583.1:p.Gln422His
ENST00000703950.1:c.1266G>C	ENSP00000515584.1:p.Gln422His
ENST00000703951.1:c.1265+2392G>C	ENSP00000515585.1:n.1265+2392G>C
ENST00000703952.1:c.1265+2392G>C	ENSP00000515586.1:n.1265+2392G>C
ENST00000703953.1:c.*529G>C	ENSP00000515587.1:n.*529G>C
ENST00000703954.1:c.1146G>C	ENSP00000515588.1:p.Gln382His
ENST00000703955.1:n.1816G>C
ENST00000298649.8:c.1263G>C	ENSP00000298649.3:p.Gln421His
ENST00000359426.7:c.1266G>C MANE Select	ENSP00000352398.6:p.Gln422His
ENST00000436817.6:c.1278G>C	ENSP00000415949.2:p.Gln426His
ENST00000493591.6:c.*1154G>C	ENSP00000494917.1:n.*1154G>C
ENST00000643399.2:c.1278G>C MANE Plus Clinical	ENSP00000494664.1:p.Gln426His
ENST00000298649.7:c.1263G>C	ENSP00000298649.3:p.Gln421His
ENST00000359426.6:c.1266G>C	ENSP00000352398.6:p.Gln422His
ENST00000360289.6:c.1230G>C	ENSP00000353433.2:p.Gln410His
ENST00000448642.6:c.1278G>C	ENSP00000402103.3:p.Gln426His
ENST00000494253.1:n.1492G>C
NM_000188.2:c.1266G>C	NP_000179.2:p.Gln422His
NM_033496.2:c.1263G>C	NP_277031.1:p.Gln421His
NM_033497.2:c.1278G>C	NP_277032.1:p.Gln426His
NM_033498.2:c.1278G>C	NP_277033.1:p.Gln426His
NM_033500.2:c.1230G>C , LRG_365t1:c.1230G>C	NP_277035.2:p.Gln410His
XM_005269735.2:c.1395G>C	XP_005269792.1:p.Gln465His
XM_005269736.1:c.1278G>C	XP_005269793.1:p.Gln426His
XM_005269737.1:c.1182G>C	XP_005269794.1:p.Gln394His
XM_011539732.1:c.1230G>C	XP_011538034.1:p.Gln410His
XM_011539733.1:c.1224G>C	XP_011538035.1:p.Gln408His
XM_011539734.1:c.1221G>C	XP_011538036.1:p.Gln407His
NM_001322364.1:c.1278G>C	NP_001309293.1:p.Gln426His
NM_001322365.1:c.1371G>C	NP_001309294.1:p.Gln457His
NM_001322366.1:c.1182G>C	NP_001309295.1:p.Gln394His
NM_001322367.1:c.1170G>C	NP_001309296.1:p.Gln390His
NM_001358263.1:c.1278G>C MANE Plus Clinical	NP_001345192.1:p.Gln426His
XM_024447969.1:c.1278G>C	XP_024303737.1:p.Gln426His
NM_000188.3:c.1266G>C MANE Select	NP_000179.2:p.Gln422His
NM_001322364.2:c.1278G>C	NP_001309293.1:p.Gln426His
NM_001322365.2:c.1371G>C	NP_001309294.1:p.Gln457His
NM_033496.3:c.1263G>C	NP_277031.1:p.Gln421His
NM_033497.3:c.1278G>C	NP_277032.1:p.Gln426His
NM_033498.3:c.1278G>C	NP_277033.1:p.Gln426His