Canonical Allele Identifier: CA376909775

Gene: HK1

Linked Data

• gnomAD v4: 10-69382618-A-G
• MyVariant Identifiers: chr10:g.71142374A>G (hg19) ; chr10:g.69382618A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382618A>G , CM000672.2:g.69382618A>G	GRCh38
NC_000010.10:g.71142374A>G , CM000672.1:g.71142374A>G	GRCh37
NC_000010.9:g.70812380A>G	NCBI36
NG_012077.1:g.117619A>G , LRG_365:g.117619A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470050.2:c.1397A>G	ENSP00000515580.1:p.Gln466Arg
ENST00000703945.1:c.1313A>G	ENSP00000515578.1:p.Gln438Arg
ENST00000703946.1:c.1265+2523A>G	ENSP00000515579.1:n.1265+2523A>G
ENST00000703947.1:c.1007A>G	ENSP00000515581.1:p.Gln336Arg
ENST00000703948.1:c.*1014A>G	ENSP00000515582.1:n.*1014A>G
ENST00000703949.1:c.1397A>G	ENSP00000515583.1:p.Gln466Arg
ENST00000703950.1:c.1397A>G	ENSP00000515584.1:p.Gln466Arg
ENST00000703951.1:c.1265+2523A>G	ENSP00000515585.1:n.1265+2523A>G
ENST00000703952.1:c.1265+2523A>G	ENSP00000515586.1:n.1265+2523A>G
ENST00000703953.1:c.*660A>G	ENSP00000515587.1:n.*660A>G
ENST00000703954.1:c.1277A>G	ENSP00000515588.1:p.Gln426Arg
ENST00000703955.1:n.1947A>G
ENST00000298649.8:c.1394A>G	ENSP00000298649.3:p.Gln465Arg
ENST00000359426.7:c.1397A>G MANE Select	ENSP00000352398.6:p.Gln466Arg
ENST00000436817.6:c.1409A>G	ENSP00000415949.2:p.Gln470Arg
ENST00000493591.6:c.*1285A>G	ENSP00000494917.1:n.*1285A>G
ENST00000643399.2:c.1409A>G MANE Plus Clinical	ENSP00000494664.1:p.Gln470Arg
ENST00000298649.7:c.1394A>G	ENSP00000298649.3:p.Gln465Arg
ENST00000359426.6:c.1397A>G	ENSP00000352398.6:p.Gln466Arg
ENST00000360289.6:c.1361A>G	ENSP00000353433.2:p.Gln454Arg
ENST00000448642.6:c.1409A>G	ENSP00000402103.3:p.Gln470Arg
ENST00000494253.1:n.1623A>G
NM_000188.2:c.1397A>G	NP_000179.2:p.Gln466Arg
NM_033496.2:c.1394A>G	NP_277031.1:p.Gln465Arg
NM_033497.2:c.1409A>G	NP_277032.1:p.Gln470Arg
NM_033498.2:c.1409A>G	NP_277033.1:p.Gln470Arg
NM_033500.2:c.1361A>G , LRG_365t1:c.1361A>G	NP_277035.2:p.Gln454Arg
XM_005269735.2:c.1526A>G	XP_005269792.1:p.Gln509Arg
XM_005269736.1:c.1409A>G	XP_005269793.1:p.Gln470Arg
XM_005269737.1:c.1313A>G	XP_005269794.1:p.Gln438Arg
XM_011539732.1:c.1361A>G	XP_011538034.1:p.Gln454Arg
XM_011539733.1:c.1355A>G	XP_011538035.1:p.Gln452Arg
XM_011539734.1:c.1352A>G	XP_011538036.1:p.Gln451Arg
NM_001322364.1:c.1409A>G	NP_001309293.1:p.Gln470Arg
NM_001322365.1:c.1502A>G	NP_001309294.1:p.Gln501Arg
NM_001322366.1:c.1313A>G	NP_001309295.1:p.Gln438Arg
NM_001322367.1:c.1301A>G	NP_001309296.1:p.Gln434Arg
NM_001358263.1:c.1409A>G MANE Plus Clinical	NP_001345192.1:p.Gln470Arg
XM_024447969.1:c.1409A>G	XP_024303737.1:p.Gln470Arg
NM_000188.3:c.1397A>G MANE Select	NP_000179.2:p.Gln466Arg
NM_001322364.2:c.1409A>G	NP_001309293.1:p.Gln470Arg
NM_001322365.2:c.1502A>G	NP_001309294.1:p.Gln501Arg
NM_033496.3:c.1394A>G	NP_277031.1:p.Gln465Arg
NM_033497.3:c.1409A>G	NP_277032.1:p.Gln470Arg
NM_033498.3:c.1409A>G	NP_277033.1:p.Gln470Arg