Canonical Allele Identifier: CA376909680
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382574G>C , CM000672.2:g.69382574G>C GRCh38
NC_000010.10:g.71142330G>C , CM000672.1:g.71142330G>C GRCh37
NC_000010.9:g.70812336G>C NCBI36
NG_012077.1:g.117575G>C , LRG_365:g.117575G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1353G>C ENSP00000515580.1:p.Lys451Asn
ENST00000703945.1:c.1269G>C ENSP00000515578.1:p.Lys423Asn
ENST00000703946.1:c.1265+2479G>C ENSP00000515579.1:n.1265+2479G>C
ENST00000703947.1:c.963G>C ENSP00000515581.1:p.Lys321Asn
ENST00000703948.1:c.*970G>C ENSP00000515582.1:n.*970G>C
ENST00000703949.1:c.1353G>C ENSP00000515583.1:p.Lys451Asn
ENST00000703950.1:c.1353G>C ENSP00000515584.1:p.Lys451Asn
ENST00000703951.1:c.1265+2479G>C ENSP00000515585.1:n.1265+2479G>C
ENST00000703952.1:c.1265+2479G>C ENSP00000515586.1:n.1265+2479G>C
ENST00000703953.1:c.*616G>C ENSP00000515587.1:n.*616G>C
ENST00000703954.1:c.1233G>C ENSP00000515588.1:p.Lys411Asn
ENST00000703955.1:n.1903G>C
ENST00000298649.8:c.1350G>C ENSP00000298649.3:p.Lys450Asn
ENST00000359426.7:c.1353G>C MANE Select ENSP00000352398.6:p.Lys451Asn
ENST00000436817.6:c.1365G>C ENSP00000415949.2:p.Lys455Asn
ENST00000493591.6:c.*1241G>C ENSP00000494917.1:n.*1241G>C
ENST00000643399.2:c.1365G>C MANE Plus Clinical ENSP00000494664.1:p.Lys455Asn
ENST00000298649.7:c.1350G>C ENSP00000298649.3:p.Lys450Asn
ENST00000359426.6:c.1353G>C ENSP00000352398.6:p.Lys451Asn
ENST00000360289.6:c.1317G>C ENSP00000353433.2:p.Lys439Asn
ENST00000448642.6:c.1365G>C ENSP00000402103.3:p.Lys455Asn
ENST00000494253.1:n.1579G>C
NM_000188.2:c.1353G>C NP_000179.2:p.Lys451Asn
NM_033496.2:c.1350G>C NP_277031.1:p.Lys450Asn
NM_033497.2:c.1365G>C NP_277032.1:p.Lys455Asn
NM_033498.2:c.1365G>C NP_277033.1:p.Lys455Asn
NM_033500.2:c.1317G>C , LRG_365t1:c.1317G>C NP_277035.2:p.Lys439Asn
XM_005269735.2:c.1482G>C XP_005269792.1:p.Lys494Asn
XM_005269736.1:c.1365G>C XP_005269793.1:p.Lys455Asn
XM_005269737.1:c.1269G>C XP_005269794.1:p.Lys423Asn
XM_011539732.1:c.1317G>C XP_011538034.1:p.Lys439Asn
XM_011539733.1:c.1311G>C XP_011538035.1:p.Lys437Asn
XM_011539734.1:c.1308G>C XP_011538036.1:p.Lys436Asn
NM_001322364.1:c.1365G>C NP_001309293.1:p.Lys455Asn
NM_001322365.1:c.1458G>C NP_001309294.1:p.Lys486Asn
NM_001322366.1:c.1269G>C NP_001309295.1:p.Lys423Asn
NM_001322367.1:c.1257G>C NP_001309296.1:p.Lys419Asn
NM_001358263.1:c.1365G>C MANE Plus Clinical NP_001345192.1:p.Lys455Asn
XM_024447969.1:c.1365G>C XP_024303737.1:p.Lys455Asn
NM_000188.3:c.1353G>C MANE Select NP_000179.2:p.Lys451Asn
NM_001322364.2:c.1365G>C NP_001309293.1:p.Lys455Asn
NM_001322365.2:c.1458G>C NP_001309294.1:p.Lys486Asn
NM_033496.3:c.1350G>C NP_277031.1:p.Lys450Asn
NM_033497.3:c.1365G>C NP_277032.1:p.Lys455Asn
NM_033498.3:c.1365G>C NP_277033.1:p.Lys455Asn