Canonical Allele Identifier: CA470276372

Gene: HK1

Linked Data

• ClinVar Variation Id: 1570390
• ClinVar RCV Id: RCV002215334
• dbSNP Id: rs2132884260
• gnomAD v4: 10-69382514-A-G
• MyVariant Identifiers: chr10:g.71142270A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382514A>G , CM000672.2:g.69382514A>G	GRCh38
NC_000010.10:g.71142270A>G , CM000672.1:g.71142270A>G	GRCh37
NC_000010.9:g.70812276A>G	NCBI36
NG_012077.1:g.117515A>G , LRG_365:g.117515A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470050.2:c.1293A>G	ENSP00000515580.1:p.Leu431=
ENST00000703945.1:c.1209A>G	ENSP00000515578.1:p.Leu403=
ENST00000703946.1:c.1265+2419A>G	ENSP00000515579.1:n.1265+2419A>G
ENST00000703947.1:c.903A>G	ENSP00000515581.1:p.Leu301=
ENST00000703948.1:c.*910A>G	ENSP00000515582.1:n.*910A>G
ENST00000703949.1:c.1293A>G	ENSP00000515583.1:p.Leu431=
ENST00000703950.1:c.1293A>G	ENSP00000515584.1:p.Leu431=
ENST00000703951.1:c.1265+2419A>G	ENSP00000515585.1:n.1265+2419A>G
ENST00000703952.1:c.1265+2419A>G	ENSP00000515586.1:n.1265+2419A>G
ENST00000703953.1:c.*556A>G	ENSP00000515587.1:n.*556A>G
ENST00000703954.1:c.1173A>G	ENSP00000515588.1:p.Leu391=
ENST00000703955.1:n.1843A>G
ENST00000298649.8:c.1290A>G	ENSP00000298649.3:p.Leu430=
ENST00000359426.7:c.1293A>G MANE Select	ENSP00000352398.6:p.Leu431=
ENST00000436817.6:c.1305A>G	ENSP00000415949.2:p.Leu435=
ENST00000493591.6:c.*1181A>G	ENSP00000494917.1:n.*1181A>G
ENST00000643399.2:c.1305A>G MANE Plus Clinical	ENSP00000494664.1:p.Leu435=
ENST00000298649.7:c.1290A>G	ENSP00000298649.3:p.Leu430=
ENST00000359426.6:c.1293A>G	ENSP00000352398.6:p.Leu431=
ENST00000360289.6:c.1257A>G	ENSP00000353433.2:p.Leu419=
ENST00000448642.6:c.1305A>G	ENSP00000402103.3:p.Leu435=
ENST00000494253.1:n.1519A>G
NM_000188.2:c.1293A>G	NP_000179.2:p.Leu431=
NM_033496.2:c.1290A>G	NP_277031.1:p.Leu430=
NM_033497.2:c.1305A>G	NP_277032.1:p.Leu435=
NM_033498.2:c.1305A>G	NP_277033.1:p.Leu435=
NM_033500.2:c.1257A>G , LRG_365t1:c.1257A>G	NP_277035.2:p.Leu419=
XM_005269735.2:c.1422A>G	XP_005269792.1:p.Leu474=
XM_005269736.1:c.1305A>G	XP_005269793.1:p.Leu435=
XM_005269737.1:c.1209A>G	XP_005269794.1:p.Leu403=
XM_011539732.1:c.1257A>G	XP_011538034.1:p.Leu419=
XM_011539733.1:c.1251A>G	XP_011538035.1:p.Leu417=
XM_011539734.1:c.1248A>G	XP_011538036.1:p.Leu416=
NM_001322364.1:c.1305A>G	NP_001309293.1:p.Leu435=
NM_001322365.1:c.1398A>G	NP_001309294.1:p.Leu466=
NM_001322366.1:c.1209A>G	NP_001309295.1:p.Leu403=
NM_001322367.1:c.1197A>G	NP_001309296.1:p.Leu399=
NM_001358263.1:c.1305A>G MANE Plus Clinical	NP_001345192.1:p.Leu435=
XM_024447969.1:c.1305A>G	XP_024303737.1:p.Leu435=
NM_000188.3:c.1293A>G MANE Select	NP_000179.2:p.Leu431=
NM_001322364.2:c.1305A>G	NP_001309293.1:p.Leu435=
NM_001322365.2:c.1398A>G	NP_001309294.1:p.Leu466=
NM_033496.3:c.1290A>G	NP_277031.1:p.Leu430=
NM_033497.3:c.1305A>G	NP_277032.1:p.Leu435=
NM_033498.3:c.1305A>G	NP_277033.1:p.Leu435=