Canonical Allele Identifier: CA5532591

Gene: HK1

Linked Data

• ClinVar Variation Id: 1560230
• ClinVar RCV Id: RCV002209101
• dbSNP Id: rs192297958
• ExAC: 10:71142369 C / T
• gnomAD v2: 10-71142369-C-T
• gnomAD v3: 10-69382613-C-T
• gnomAD v4: 10-69382613-C-T
• COSMIC: COSM6066544 ; COSM6066545 ; COSM6066546 ; COSM6066547
• MyVariant Identifiers: chr10:g.71142369C>T (hg19) ; chr10:g.69382613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382613C>T , CM000672.2:g.69382613C>T	GRCh38
NC_000010.10:g.71142369C>T , CM000672.1:g.71142369C>T	GRCh37
NC_000010.9:g.70812375C>T	NCBI36
NG_012077.1:g.117614C>T , LRG_365:g.117614C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1392C>T	ENSP00000515580.1:p.Ala464=
ENST00000703945.1:c.1308C>T	ENSP00000515578.1:p.Ala436=
ENST00000703946.1:c.1265+2518C>T	ENSP00000515579.1:n.1265+2518C>T
ENST00000703947.1:c.1002C>T	ENSP00000515581.1:p.Ala334=
ENST00000703948.1:c.*1009C>T	ENSP00000515582.1:n.*1009C>T
ENST00000703949.1:c.1392C>T	ENSP00000515583.1:p.Ala464=
ENST00000703950.1:c.1392C>T	ENSP00000515584.1:p.Ala464=
ENST00000703951.1:c.1265+2518C>T	ENSP00000515585.1:n.1265+2518C>T
ENST00000703952.1:c.1265+2518C>T	ENSP00000515586.1:n.1265+2518C>T
ENST00000703953.1:c.*655C>T	ENSP00000515587.1:n.*655C>T
ENST00000703954.1:c.1272C>T	ENSP00000515588.1:p.Ala424=
ENST00000703955.1:n.1942C>T
ENST00000298649.8:c.1389C>T	ENSP00000298649.3:p.Ala463=
ENST00000359426.7:c.1392C>T MANE Select	ENSP00000352398.6:p.Ala464=
ENST00000436817.6:c.1404C>T	ENSP00000415949.2:p.Ala468=
ENST00000493591.6:c.*1280C>T	ENSP00000494917.1:n.*1280C>T
ENST00000643399.2:c.1404C>T MANE Plus Clinical	ENSP00000494664.1:p.Ala468=
ENST00000298649.7:c.1389C>T	ENSP00000298649.3:p.Ala463=
ENST00000359426.6:c.1392C>T	ENSP00000352398.6:p.Ala464=
ENST00000360289.6:c.1356C>T	ENSP00000353433.2:p.Ala452=
ENST00000448642.6:c.1404C>T	ENSP00000402103.3:p.Ala468=
ENST00000494253.1:n.1618C>T
NM_000188.2:c.1392C>T	NP_000179.2:p.Ala464=
NM_033496.2:c.1389C>T	NP_277031.1:p.Ala463=
NM_033497.2:c.1404C>T	NP_277032.1:p.Ala468=
NM_033498.2:c.1404C>T	NP_277033.1:p.Ala468=
NM_033500.2:c.1356C>T , LRG_365t1:c.1356C>T	NP_277035.2:p.Ala452=
XM_005269735.2:c.1521C>T	XP_005269792.1:p.Ala507=
XM_005269736.1:c.1404C>T	XP_005269793.1:p.Ala468=
XM_005269737.1:c.1308C>T	XP_005269794.1:p.Ala436=
XM_011539732.1:c.1356C>T	XP_011538034.1:p.Ala452=
XM_011539733.1:c.1350C>T	XP_011538035.1:p.Ala450=
XM_011539734.1:c.1347C>T	XP_011538036.1:p.Ala449=
NM_001322364.1:c.1404C>T	NP_001309293.1:p.Ala468=
NM_001322365.1:c.1497C>T	NP_001309294.1:p.Ala499=
NM_001322366.1:c.1308C>T	NP_001309295.1:p.Ala436=
NM_001322367.1:c.1296C>T	NP_001309296.1:p.Ala432=
NM_001358263.1:c.1404C>T MANE Plus Clinical	NP_001345192.1:p.Ala468=
XM_024447969.1:c.1404C>T	XP_024303737.1:p.Ala468=
NM_000188.3:c.1392C>T MANE Select	NP_000179.2:p.Ala464=
NM_001322364.2:c.1404C>T	NP_001309293.1:p.Ala468=
NM_001322365.2:c.1497C>T	NP_001309294.1:p.Ala499=
NM_033496.3:c.1389C>T	NP_277031.1:p.Ala463=
NM_033497.3:c.1404C>T	NP_277032.1:p.Ala468=
NM_033498.3:c.1404C>T	NP_277033.1:p.Ala468=