Canonical Allele Identifier: CA16042708
Gene: HK1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372693
ClinVar RCV Id: RCV000413860
dbSNP Id: rs1057517928

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382591C>T , CM000672.2:g.69382591C>T GRCh38
NC_000010.10:g.71142347C>T , CM000672.1:g.71142347C>T GRCh37
NC_000010.9:g.70812353C>T NCBI36
NG_012077.1:g.117592C>T , LRG_365:g.117592C>T

Transcript Alleles

HGVS Amino-acid change
NM_000188.2:c.1370C>T VV NP_000179.2:p.Thr457Met
NM_033496.2:c.1367C>T VV NP_277031.1:p.Thr456Met
NM_033497.2:c.1382C>T VV NP_277032.1:p.Thr461Met
NM_033498.2:c.1382C>T VV NP_277033.1:p.Thr461Met
NM_033500.2:c.1334C>T , LRG_365t1:c.1334C>T NP_277035.2:p.Thr445Met
XM_005269735.2:c.1499C>T XP_005269792.1:p.Thr500Met
XM_005269736.1:c.1382C>T XP_005269793.1:p.Thr461Met
XM_005269737.1:c.1286C>T XP_005269794.1:p.Thr429Met
XM_011539732.1:c.1334C>T XP_011538034.1:p.Thr445Met
XM_011539733.1:c.1328C>T XP_011538035.1:p.Thr443Met
XM_011539734.1:c.1325C>T XP_011538036.1:p.Thr442Met
NM_001322364.1:c.1382C>T VV NP_001309293.1:p.Thr461Met
NM_001322365.1:c.1475C>T VV NP_001309294.1:p.Thr492Met
NM_001322366.1:c.1286C>T VV NP_001309295.1:p.Thr429Met
NM_001322367.1:c.1274C>T VV NP_001309296.1:p.Thr425Met
NM_001358263.1:c.1382C>T VV NP_001345192.1:p.Thr461Met
XM_024447969.1:c.1382C>T XP_024303737.1:p.Thr461Met
ENST00000298649.7:c.1367C>T ENSP00000298649.3:p.Thr456Met
ENST00000359426.6:c.1370C>T ENSP00000352398.6:p.Thr457Met
ENST00000360289.6:c.1334C>T ENSP00000353433.2:p.Thr445Met
ENST00000448642.6:c.1382C>T ENSP00000402103.3:p.Thr461Met
ENST00000494253.1:n.1596C>T