Canonical Allele Identifier: CA16618972
Gene: HK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421007
dbSNP Id: rs1064794848

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382555C>T , CM000672.2:g.69382555C>T GRCh38
NC_000010.10:g.71142311C>T , CM000672.1:g.71142311C>T GRCh37
NC_000010.9:g.70812317C>T NCBI36
NG_012077.1:g.117556C>T , LRG_365:g.117556C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1334C>T ENSP00000515580.1:p.Ser445Leu
ENST00000703945.1:c.1250C>T ENSP00000515578.1:p.Ser417Leu
ENST00000703946.1:c.1265+2460C>T ENSP00000515579.1:n.1265+2460C>T
ENST00000703947.1:c.944C>T ENSP00000515581.1:p.Ser315Leu
ENST00000703948.1:c.*951C>T ENSP00000515582.1:n.*951C>T
ENST00000703949.1:c.1334C>T ENSP00000515583.1:p.Ser445Leu
ENST00000703950.1:c.1334C>T ENSP00000515584.1:p.Ser445Leu
ENST00000703951.1:c.1265+2460C>T ENSP00000515585.1:n.1265+2460C>T
ENST00000703952.1:c.1265+2460C>T ENSP00000515586.1:n.1265+2460C>T
ENST00000703953.1:c.*597C>T ENSP00000515587.1:n.*597C>T
ENST00000703954.1:c.1214C>T ENSP00000515588.1:p.Ser405Leu
ENST00000703955.1:n.1884C>T
ENST00000298649.8:c.1331C>T ENSP00000298649.3:p.Ser444Leu
ENST00000359426.7:c.1334C>T MANE Select ENSP00000352398.6:p.Ser445Leu
ENST00000436817.6:c.1346C>T ENSP00000415949.2:p.Ser449Leu
ENST00000493591.6:c.*1222C>T ENSP00000494917.1:n.*1222C>T
ENST00000643399.2:c.1346C>T MANE Plus Clinical ENSP00000494664.1:p.Ser449Leu
ENST00000298649.7:c.1331C>T ENSP00000298649.3:p.Ser444Leu
ENST00000359426.6:c.1334C>T ENSP00000352398.6:p.Ser445Leu
ENST00000360289.6:c.1298C>T ENSP00000353433.2:p.Ser433Leu
ENST00000448642.6:c.1346C>T ENSP00000402103.3:p.Ser449Leu
ENST00000494253.1:n.1560C>T
NM_000188.2:c.1334C>T NP_000179.2:p.Ser445Leu
NM_033496.2:c.1331C>T NP_277031.1:p.Ser444Leu
NM_033497.2:c.1346C>T NP_277032.1:p.Ser449Leu
NM_033498.2:c.1346C>T NP_277033.1:p.Ser449Leu
NM_033500.2:c.1298C>T , LRG_365t1:c.1298C>T NP_277035.2:p.Ser433Leu
XM_005269735.2:c.1463C>T XP_005269792.1:p.Ser488Leu
XM_005269736.1:c.1346C>T XP_005269793.1:p.Ser449Leu
XM_005269737.1:c.1250C>T XP_005269794.1:p.Ser417Leu
XM_011539732.1:c.1298C>T XP_011538034.1:p.Ser433Leu
XM_011539733.1:c.1292C>T XP_011538035.1:p.Ser431Leu
XM_011539734.1:c.1289C>T XP_011538036.1:p.Ser430Leu
NM_001322364.1:c.1346C>T NP_001309293.1:p.Ser449Leu
NM_001322365.1:c.1439C>T NP_001309294.1:p.Ser480Leu
NM_001322366.1:c.1250C>T NP_001309295.1:p.Ser417Leu
NM_001322367.1:c.1238C>T NP_001309296.1:p.Ser413Leu
NM_001358263.1:c.1346C>T MANE Plus Clinical NP_001345192.1:p.Ser449Leu
XM_024447969.1:c.1346C>T XP_024303737.1:p.Ser449Leu
NM_000188.3:c.1334C>T MANE Select NP_000179.2:p.Ser445Leu
NM_001322364.2:c.1346C>T NP_001309293.1:p.Ser449Leu
NM_001322365.2:c.1439C>T NP_001309294.1:p.Ser480Leu
NM_033496.3:c.1331C>T NP_277031.1:p.Ser444Leu
NM_033497.3:c.1346C>T NP_277032.1:p.Ser449Leu
NM_033498.3:c.1346C>T NP_277033.1:p.Ser449Leu