Canonical Allele Identifier: CA376909550

Gene: HK1

Linked Data

• gnomAD v4: 10-69382512-C-G
• MyVariant Identifiers: chr10:g.71142268C>G (hg19) ; chr10:g.69382512C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382512C>G , CM000672.2:g.69382512C>G	GRCh38
NC_000010.10:g.71142268C>G , CM000672.1:g.71142268C>G	GRCh37
NC_000010.9:g.70812274C>G	NCBI36
NG_012077.1:g.117513C>G , LRG_365:g.117513C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470050.2:c.1291C>G	ENSP00000515580.1:p.Leu431Val
ENST00000703945.1:c.1207C>G	ENSP00000515578.1:p.Leu403Val
ENST00000703946.1:c.1265+2417C>G	ENSP00000515579.1:n.1265+2417C>G
ENST00000703947.1:c.901C>G	ENSP00000515581.1:p.Leu301Val
ENST00000703948.1:c.*908C>G	ENSP00000515582.1:n.*908C>G
ENST00000703949.1:c.1291C>G	ENSP00000515583.1:p.Leu431Val
ENST00000703950.1:c.1291C>G	ENSP00000515584.1:p.Leu431Val
ENST00000703951.1:c.1265+2417C>G	ENSP00000515585.1:n.1265+2417C>G
ENST00000703952.1:c.1265+2417C>G	ENSP00000515586.1:n.1265+2417C>G
ENST00000703953.1:c.*554C>G	ENSP00000515587.1:n.*554C>G
ENST00000703954.1:c.1171C>G	ENSP00000515588.1:p.Leu391Val
ENST00000703955.1:n.1841C>G
ENST00000298649.8:c.1288C>G	ENSP00000298649.3:p.Leu430Val
ENST00000359426.7:c.1291C>G MANE Select	ENSP00000352398.6:p.Leu431Val
ENST00000436817.6:c.1303C>G	ENSP00000415949.2:p.Leu435Val
ENST00000493591.6:c.*1179C>G	ENSP00000494917.1:n.*1179C>G
ENST00000643399.2:c.1303C>G MANE Plus Clinical	ENSP00000494664.1:p.Leu435Val
ENST00000298649.7:c.1288C>G	ENSP00000298649.3:p.Leu430Val
ENST00000359426.6:c.1291C>G	ENSP00000352398.6:p.Leu431Val
ENST00000360289.6:c.1255C>G	ENSP00000353433.2:p.Leu419Val
ENST00000448642.6:c.1303C>G	ENSP00000402103.3:p.Leu435Val
ENST00000494253.1:n.1517C>G
NM_000188.2:c.1291C>G	NP_000179.2:p.Leu431Val
NM_033496.2:c.1288C>G	NP_277031.1:p.Leu430Val
NM_033497.2:c.1303C>G	NP_277032.1:p.Leu435Val
NM_033498.2:c.1303C>G	NP_277033.1:p.Leu435Val
NM_033500.2:c.1255C>G , LRG_365t1:c.1255C>G	NP_277035.2:p.Leu419Val
XM_005269735.2:c.1420C>G	XP_005269792.1:p.Leu474Val
XM_005269736.1:c.1303C>G	XP_005269793.1:p.Leu435Val
XM_005269737.1:c.1207C>G	XP_005269794.1:p.Leu403Val
XM_011539732.1:c.1255C>G	XP_011538034.1:p.Leu419Val
XM_011539733.1:c.1249C>G	XP_011538035.1:p.Leu417Val
XM_011539734.1:c.1246C>G	XP_011538036.1:p.Leu416Val
NM_001322364.1:c.1303C>G	NP_001309293.1:p.Leu435Val
NM_001322365.1:c.1396C>G	NP_001309294.1:p.Leu466Val
NM_001322366.1:c.1207C>G	NP_001309295.1:p.Leu403Val
NM_001322367.1:c.1195C>G	NP_001309296.1:p.Leu399Val
NM_001358263.1:c.1303C>G MANE Plus Clinical	NP_001345192.1:p.Leu435Val
XM_024447969.1:c.1303C>G	XP_024303737.1:p.Leu435Val
NM_000188.3:c.1291C>G MANE Select	NP_000179.2:p.Leu431Val
NM_001322364.2:c.1303C>G	NP_001309293.1:p.Leu435Val
NM_001322365.2:c.1396C>G	NP_001309294.1:p.Leu466Val
NM_033496.3:c.1288C>G	NP_277031.1:p.Leu430Val
NM_033497.3:c.1303C>G	NP_277032.1:p.Leu435Val
NM_033498.3:c.1303C>G	NP_277033.1:p.Leu435Val