Canonical Allele Identifier: CA376909517

Gene: HK1

Linked Data

• dbSNP Id: rs1177686967
• gnomAD v2: 10-71142253-C-T
• gnomAD v3: 10-69382497-C-T
• gnomAD v4: 10-69382497-C-T
• COSMIC: COSM4610725 ; COSM4610726 ; COSM4610727 ; COSM4610728
• MyVariant Identifiers: chr10:g.71142253C>T (hg19) ; chr10:g.69382497C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382497C>T , CM000672.2:g.69382497C>T	GRCh38
NC_000010.10:g.71142253C>T , CM000672.1:g.71142253C>T	GRCh37
NC_000010.9:g.70812259C>T	NCBI36
NG_012077.1:g.117498C>T , LRG_365:g.117498C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470050.2:c.1276C>T	ENSP00000515580.1:p.Arg426Cys
ENST00000703945.1:c.1192C>T	ENSP00000515578.1:p.Arg398Cys
ENST00000703946.1:c.1265+2402C>T	ENSP00000515579.1:n.1265+2402C>T
ENST00000703947.1:c.886C>T	ENSP00000515581.1:p.Arg296Cys
ENST00000703948.1:c.*893C>T	ENSP00000515582.1:n.*893C>T
ENST00000703949.1:c.1276C>T	ENSP00000515583.1:p.Arg426Cys
ENST00000703950.1:c.1276C>T	ENSP00000515584.1:p.Arg426Cys
ENST00000703951.1:c.1265+2402C>T	ENSP00000515585.1:n.1265+2402C>T
ENST00000703952.1:c.1265+2402C>T	ENSP00000515586.1:n.1265+2402C>T
ENST00000703953.1:c.*539C>T	ENSP00000515587.1:n.*539C>T
ENST00000703954.1:c.1156C>T	ENSP00000515588.1:p.Arg386Cys
ENST00000703955.1:n.1826C>T
ENST00000298649.8:c.1273C>T	ENSP00000298649.3:p.Arg425Cys
ENST00000359426.7:c.1276C>T MANE Select	ENSP00000352398.6:p.Arg426Cys
ENST00000436817.6:c.1288C>T	ENSP00000415949.2:p.Arg430Cys
ENST00000493591.6:c.*1164C>T	ENSP00000494917.1:n.*1164C>T
ENST00000643399.2:c.1288C>T MANE Plus Clinical	ENSP00000494664.1:p.Arg430Cys
ENST00000298649.7:c.1273C>T	ENSP00000298649.3:p.Arg425Cys
ENST00000359426.6:c.1276C>T	ENSP00000352398.6:p.Arg426Cys
ENST00000360289.6:c.1240C>T	ENSP00000353433.2:p.Arg414Cys
ENST00000448642.6:c.1288C>T	ENSP00000402103.3:p.Arg430Cys
ENST00000494253.1:n.1502C>T
NM_000188.2:c.1276C>T	NP_000179.2:p.Arg426Cys
NM_033496.2:c.1273C>T	NP_277031.1:p.Arg425Cys
NM_033497.2:c.1288C>T	NP_277032.1:p.Arg430Cys
NM_033498.2:c.1288C>T	NP_277033.1:p.Arg430Cys
NM_033500.2:c.1240C>T , LRG_365t1:c.1240C>T	NP_277035.2:p.Arg414Cys
XM_005269735.2:c.1405C>T	XP_005269792.1:p.Arg469Cys
XM_005269736.1:c.1288C>T	XP_005269793.1:p.Arg430Cys
XM_005269737.1:c.1192C>T	XP_005269794.1:p.Arg398Cys
XM_011539732.1:c.1240C>T	XP_011538034.1:p.Arg414Cys
XM_011539733.1:c.1234C>T	XP_011538035.1:p.Arg412Cys
XM_011539734.1:c.1231C>T	XP_011538036.1:p.Arg411Cys
NM_001322364.1:c.1288C>T	NP_001309293.1:p.Arg430Cys
NM_001322365.1:c.1381C>T	NP_001309294.1:p.Arg461Cys
NM_001322366.1:c.1192C>T	NP_001309295.1:p.Arg398Cys
NM_001322367.1:c.1180C>T	NP_001309296.1:p.Arg394Cys
NM_001358263.1:c.1288C>T MANE Plus Clinical	NP_001345192.1:p.Arg430Cys
XM_024447969.1:c.1288C>T	XP_024303737.1:p.Arg430Cys
NM_000188.3:c.1276C>T MANE Select	NP_000179.2:p.Arg426Cys
NM_001322364.2:c.1288C>T	NP_001309293.1:p.Arg430Cys
NM_001322365.2:c.1381C>T	NP_001309294.1:p.Arg461Cys
NM_033496.3:c.1273C>T	NP_277031.1:p.Arg425Cys
NM_033497.3:c.1288C>T	NP_277032.1:p.Arg430Cys
NM_033498.3:c.1288C>T	NP_277033.1:p.Arg430Cys