Canonical Allele Identifier: CA376909777

Gene: HK1

Linked Data

• MyVariant Identifiers: chr10:g.71142375G>C (hg19) ; chr10:g.69382619G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382619G>C , CM000672.2:g.69382619G>C	GRCh38
NC_000010.10:g.71142375G>C , CM000672.1:g.71142375G>C	GRCh37
NC_000010.9:g.70812381G>C	NCBI36
NG_012077.1:g.117620G>C , LRG_365:g.117620G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1398G>C	ENSP00000515580.1:p.Gln466His
ENST00000703945.1:c.1314G>C	ENSP00000515578.1:p.Gln438His
ENST00000703946.1:c.1265+2524G>C	ENSP00000515579.1:n.1265+2524G>C
ENST00000703947.1:c.1008G>C	ENSP00000515581.1:p.Gln336His
ENST00000703948.1:c.*1015G>C	ENSP00000515582.1:n.*1015G>C
ENST00000703949.1:c.1398G>C	ENSP00000515583.1:p.Gln466His
ENST00000703950.1:c.1398G>C	ENSP00000515584.1:p.Gln466His
ENST00000703951.1:c.1265+2524G>C	ENSP00000515585.1:n.1265+2524G>C
ENST00000703952.1:c.1265+2524G>C	ENSP00000515586.1:n.1265+2524G>C
ENST00000703953.1:c.*661G>C	ENSP00000515587.1:n.*661G>C
ENST00000703954.1:c.1278G>C	ENSP00000515588.1:p.Gln426His
ENST00000703955.1:n.1948G>C
ENST00000298649.8:c.1395G>C	ENSP00000298649.3:p.Gln465His
ENST00000359426.7:c.1398G>C MANE Select	ENSP00000352398.6:p.Gln466His
ENST00000436817.6:c.1410G>C	ENSP00000415949.2:p.Gln470His
ENST00000493591.6:c.*1286G>C	ENSP00000494917.1:n.*1286G>C
ENST00000643399.2:c.1410G>C MANE Plus Clinical	ENSP00000494664.1:p.Gln470His
ENST00000298649.7:c.1395G>C	ENSP00000298649.3:p.Gln465His
ENST00000359426.6:c.1398G>C	ENSP00000352398.6:p.Gln466His
ENST00000360289.6:c.1362G>C	ENSP00000353433.2:p.Gln454His
ENST00000448642.6:c.1410G>C	ENSP00000402103.3:p.Gln470His
ENST00000494253.1:n.1624G>C
NM_000188.2:c.1398G>C	NP_000179.2:p.Gln466His
NM_033496.2:c.1395G>C	NP_277031.1:p.Gln465His
NM_033497.2:c.1410G>C	NP_277032.1:p.Gln470His
NM_033498.2:c.1410G>C	NP_277033.1:p.Gln470His
NM_033500.2:c.1362G>C , LRG_365t1:c.1362G>C	NP_277035.2:p.Gln454His
XM_005269735.2:c.1527G>C	XP_005269792.1:p.Gln509His
XM_005269736.1:c.1410G>C	XP_005269793.1:p.Gln470His
XM_005269737.1:c.1314G>C	XP_005269794.1:p.Gln438His
XM_011539732.1:c.1362G>C	XP_011538034.1:p.Gln454His
XM_011539733.1:c.1356G>C	XP_011538035.1:p.Gln452His
XM_011539734.1:c.1353G>C	XP_011538036.1:p.Gln451His
NM_001322364.1:c.1410G>C	NP_001309293.1:p.Gln470His
NM_001322365.1:c.1503G>C	NP_001309294.1:p.Gln501His
NM_001322366.1:c.1314G>C	NP_001309295.1:p.Gln438His
NM_001322367.1:c.1302G>C	NP_001309296.1:p.Gln434His
NM_001358263.1:c.1410G>C MANE Plus Clinical	NP_001345192.1:p.Gln470His
XM_024447969.1:c.1410G>C	XP_024303737.1:p.Gln470His
NM_000188.3:c.1398G>C MANE Select	NP_000179.2:p.Gln466His
NM_001322364.2:c.1410G>C	NP_001309293.1:p.Gln470His
NM_001322365.2:c.1503G>C	NP_001309294.1:p.Gln501His
NM_033496.3:c.1395G>C	NP_277031.1:p.Gln465His
NM_033497.3:c.1410G>C	NP_277032.1:p.Gln470His
NM_033498.3:c.1410G>C	NP_277033.1:p.Gln470His