Canonical Allele Identifier: CA376909543
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382508G>T , CM000672.2:g.69382508G>T GRCh38
NC_000010.10:g.71142264G>T , CM000672.1:g.71142264G>T GRCh37
NC_000010.9:g.70812270G>T NCBI36
NG_012077.1:g.117509G>T , LRG_365:g.117509G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470050.2:c.1287G>T ENSP00000515580.1:p.Lys429Asn
ENST00000703945.1:c.1203G>T ENSP00000515578.1:p.Lys401Asn
ENST00000703946.1:c.1265+2413G>T ENSP00000515579.1:n.1265+2413G>T
ENST00000703947.1:c.897G>T ENSP00000515581.1:p.Lys299Asn
ENST00000703948.1:c.*904G>T ENSP00000515582.1:n.*904G>T
ENST00000703949.1:c.1287G>T ENSP00000515583.1:p.Lys429Asn
ENST00000703950.1:c.1287G>T ENSP00000515584.1:p.Lys429Asn
ENST00000703951.1:c.1265+2413G>T ENSP00000515585.1:n.1265+2413G>T
ENST00000703952.1:c.1265+2413G>T ENSP00000515586.1:n.1265+2413G>T
ENST00000703953.1:c.*550G>T ENSP00000515587.1:n.*550G>T
ENST00000703954.1:c.1167G>T ENSP00000515588.1:p.Lys389Asn
ENST00000703955.1:n.1837G>T
ENST00000298649.8:c.1284G>T ENSP00000298649.3:p.Lys428Asn
ENST00000359426.7:c.1287G>T MANE Select ENSP00000352398.6:p.Lys429Asn
ENST00000436817.6:c.1299G>T ENSP00000415949.2:p.Lys433Asn
ENST00000493591.6:c.*1175G>T ENSP00000494917.1:n.*1175G>T
ENST00000643399.2:c.1299G>T MANE Plus Clinical ENSP00000494664.1:p.Lys433Asn
ENST00000298649.7:c.1284G>T ENSP00000298649.3:p.Lys428Asn
ENST00000359426.6:c.1287G>T ENSP00000352398.6:p.Lys429Asn
ENST00000360289.6:c.1251G>T ENSP00000353433.2:p.Lys417Asn
ENST00000448642.6:c.1299G>T ENSP00000402103.3:p.Lys433Asn
ENST00000494253.1:n.1513G>T
NM_000188.2:c.1287G>T NP_000179.2:p.Lys429Asn
NM_033496.2:c.1284G>T NP_277031.1:p.Lys428Asn
NM_033497.2:c.1299G>T NP_277032.1:p.Lys433Asn
NM_033498.2:c.1299G>T NP_277033.1:p.Lys433Asn
NM_033500.2:c.1251G>T , LRG_365t1:c.1251G>T NP_277035.2:p.Lys417Asn
XM_005269735.2:c.1416G>T XP_005269792.1:p.Lys472Asn
XM_005269736.1:c.1299G>T XP_005269793.1:p.Lys433Asn
XM_005269737.1:c.1203G>T XP_005269794.1:p.Lys401Asn
XM_011539732.1:c.1251G>T XP_011538034.1:p.Lys417Asn
XM_011539733.1:c.1245G>T XP_011538035.1:p.Lys415Asn
XM_011539734.1:c.1242G>T XP_011538036.1:p.Lys414Asn
NM_001322364.1:c.1299G>T NP_001309293.1:p.Lys433Asn
NM_001322365.1:c.1392G>T NP_001309294.1:p.Lys464Asn
NM_001322366.1:c.1203G>T NP_001309295.1:p.Lys401Asn
NM_001322367.1:c.1191G>T NP_001309296.1:p.Lys397Asn
NM_001358263.1:c.1299G>T MANE Plus Clinical NP_001345192.1:p.Lys433Asn
XM_024447969.1:c.1299G>T XP_024303737.1:p.Lys433Asn
NM_000188.3:c.1287G>T MANE Select NP_000179.2:p.Lys429Asn
NM_001322364.2:c.1299G>T NP_001309293.1:p.Lys433Asn
NM_001322365.2:c.1392G>T NP_001309294.1:p.Lys464Asn
NM_033496.3:c.1284G>T NP_277031.1:p.Lys428Asn
NM_033497.3:c.1299G>T NP_277032.1:p.Lys433Asn
NM_033498.3:c.1299G>T NP_277033.1:p.Lys433Asn