Canonical Allele Identifier: CA2609447172

Gene: HK1

Linked Data

• gnomAD v4: 10-69384212-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69384212G>T , CM000672.2:g.69384212G>T	GRCh38
NC_000010.10:g.71143968G>T , CM000672.1:g.71143968G>T	GRCh37
NC_000010.9:g.70813974G>T	NCBI36
NG_012077.1:g.119213G>T , LRG_365:g.119213G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1571-121G>T	ENSP00000515580.1:n.1571-121G>T
ENST00000703945.1:c.1487-121G>T	ENSP00000515578.1:n.1487-121G>T
ENST00000703946.1:c.1265+4117G>T	ENSP00000515579.1:n.1265+4117G>T
ENST00000703947.1:c.1181-121G>T	ENSP00000515581.1:n.1181-121G>T
ENST00000703948.1:c.*1188-121G>T	ENSP00000515582.1:n.*1188-121G>T
ENST00000703949.1:c.1571-121G>T	ENSP00000515583.1:n.1571-121G>T
ENST00000703950.1:c.1571-121G>T	ENSP00000515584.1:n.1571-121G>T
ENST00000703951.1:c.1265+4117G>T	ENSP00000515585.1:n.1265+4117G>T
ENST00000703952.1:c.1265+4117G>T	ENSP00000515586.1:n.1265+4117G>T
ENST00000703953.1:c.*834-121G>T	ENSP00000515587.1:n.*834-121G>T
ENST00000703954.1:c.1451-121G>T	ENSP00000515588.1:n.1451-121G>T
ENST00000703955.1:n.2121-121G>T
ENST00000703957.1:n.76-121G>T
ENST00000298649.8:c.1568-121G>T	ENSP00000298649.3:n.1568-121G>T
ENST00000359426.7:c.1571-121G>T MANE Select	ENSP00000352398.6:n.1571-121G>T
ENST00000436817.6:c.1583-121G>T	ENSP00000415949.2:n.1583-121G>T
ENST00000493591.6:c.*1459-121G>T	ENSP00000494917.1:n.*1459-121G>T
ENST00000643399.2:c.1583-121G>T MANE Plus Clinical	ENSP00000494664.1:n.1583-121G>T
ENST00000298649.7:c.1568-121G>T	ENSP00000298649.3:n.1568-121G>T
ENST00000359426.6:c.1571-121G>T	ENSP00000352398.6:n.1571-121G>T
ENST00000360289.6:c.1535-121G>T	ENSP00000353433.2:n.1535-121G>T
ENST00000448642.6:c.1583-121G>T	ENSP00000402103.3:n.1583-121G>T
ENST00000494253.1:n.1797-121G>T
NM_000188.2:c.1571-121G>T	NP_000179.2:n.1571-121G>T
NM_033496.2:c.1568-121G>T	NP_277031.1:n.1568-121G>T
NM_033497.2:c.1583-121G>T	NP_277032.1:n.1583-121G>T
NM_033498.2:c.1583-121G>T	NP_277033.1:n.1583-121G>T
NM_033500.2:c.1535-121G>T , LRG_365t1:c.1535-121G>T	NP_277035.2:n.1535-121G>T
XM_005269735.2:c.1700-121G>T	XP_005269792.1:n.1700-121G>T
XM_005269736.1:c.1583-121G>T	XP_005269793.1:n.1583-121G>T
XM_005269737.1:c.1487-121G>T	XP_005269794.1:n.1487-121G>T
XM_011539732.1:c.1535-121G>T	XP_011538034.1:n.1535-121G>T
XM_011539733.1:c.1529-121G>T	XP_011538035.1:n.1529-121G>T
XM_011539734.1:c.1526-121G>T	XP_011538036.1:n.1526-121G>T
NM_001322364.1:c.1583-121G>T	NP_001309293.1:n.1583-121G>T
NM_001322365.1:c.1676-121G>T	NP_001309294.1:n.1676-121G>T
NM_001322366.1:c.1487-121G>T	NP_001309295.1:n.1487-121G>T
NM_001322367.1:c.1475-121G>T	NP_001309296.1:n.1475-121G>T
NM_001358263.1:c.1583-121G>T MANE Plus Clinical	NP_001345192.1:n.1583-121G>T
XM_024447969.1:c.1583-121G>T	XP_024303737.1:n.1583-121G>T
NM_000188.3:c.1571-121G>T MANE Select	NP_000179.2:n.1571-121G>T
NM_001322364.2:c.1583-121G>T	NP_001309293.1:n.1583-121G>T
NM_001322365.2:c.1676-121G>T	NP_001309294.1:n.1676-121G>T
NM_033496.3:c.1568-121G>T	NP_277031.1:n.1568-121G>T
NM_033497.3:c.1583-121G>T	NP_277032.1:n.1583-121G>T
NM_033498.3:c.1583-121G>T	NP_277033.1:n.1583-121G>T