Canonical Allele Identifier: CA376911222

Gene: HK1

Linked Data

• MyVariant Identifiers: chr10:g.71144151A>C (hg19) ; chr10:g.69384395A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69384395A>C , CM000672.2:g.69384395A>C	GRCh38
NC_000010.10:g.71144151A>C , CM000672.1:g.71144151A>C	GRCh37
NC_000010.9:g.70814157A>C	NCBI36
NG_012077.1:g.119396A>C , LRG_365:g.119396A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1633A>C	ENSP00000515580.1:p.Ile545Leu
ENST00000703945.1:c.1549A>C	ENSP00000515578.1:p.Ile517Leu
ENST00000703946.1:c.1265+4300A>C	ENSP00000515579.1:n.1265+4300A>C
ENST00000703947.1:c.1243A>C	ENSP00000515581.1:p.Ile415Leu
ENST00000703948.1:c.*1250A>C	ENSP00000515582.1:n.*1250A>C
ENST00000703949.1:c.1633A>C	ENSP00000515583.1:p.Ile545Leu
ENST00000703950.1:c.1633A>C	ENSP00000515584.1:p.Ile545Leu
ENST00000703951.1:c.1265+4300A>C	ENSP00000515585.1:n.1265+4300A>C
ENST00000703952.1:c.1265+4300A>C	ENSP00000515586.1:n.1265+4300A>C
ENST00000703953.1:c.*896A>C	ENSP00000515587.1:n.*896A>C
ENST00000703954.1:c.1513A>C	ENSP00000515588.1:p.Ile505Leu
ENST00000703955.1:n.2183A>C
ENST00000703957.1:n.138A>C
ENST00000298649.8:c.1630A>C	ENSP00000298649.3:p.Ile544Leu
ENST00000359426.7:c.1633A>C MANE Select	ENSP00000352398.6:p.Ile545Leu
ENST00000436817.6:c.1645A>C	ENSP00000415949.2:p.Ile549Leu
ENST00000493591.6:c.*1521A>C	ENSP00000494917.1:n.*1521A>C
ENST00000643399.2:c.1645A>C MANE Plus Clinical	ENSP00000494664.1:p.Ile549Leu
ENST00000298649.7:c.1630A>C	ENSP00000298649.3:p.Ile544Leu
ENST00000359426.6:c.1633A>C	ENSP00000352398.6:p.Ile545Leu
ENST00000360289.6:c.1597A>C	ENSP00000353433.2:p.Ile533Leu
ENST00000448642.6:c.1645A>C	ENSP00000402103.3:p.Ile549Leu
ENST00000494253.1:n.1859A>C
NM_000188.2:c.1633A>C	NP_000179.2:p.Ile545Leu
NM_033496.2:c.1630A>C	NP_277031.1:p.Ile544Leu
NM_033497.2:c.1645A>C	NP_277032.1:p.Ile549Leu
NM_033498.2:c.1645A>C	NP_277033.1:p.Ile549Leu
NM_033500.2:c.1597A>C , LRG_365t1:c.1597A>C	NP_277035.2:p.Ile533Leu
XM_005269735.2:c.1762A>C	XP_005269792.1:p.Ile588Leu
XM_005269736.1:c.1645A>C	XP_005269793.1:p.Ile549Leu
XM_005269737.1:c.1549A>C	XP_005269794.1:p.Ile517Leu
XM_011539732.1:c.1597A>C	XP_011538034.1:p.Ile533Leu
XM_011539733.1:c.1591A>C	XP_011538035.1:p.Ile531Leu
XM_011539734.1:c.1588A>C	XP_011538036.1:p.Ile530Leu
NM_001322364.1:c.1645A>C	NP_001309293.1:p.Ile549Leu
NM_001322365.1:c.1738A>C	NP_001309294.1:p.Ile580Leu
NM_001322366.1:c.1549A>C	NP_001309295.1:p.Ile517Leu
NM_001322367.1:c.1537A>C	NP_001309296.1:p.Ile513Leu
NM_001358263.1:c.1645A>C MANE Plus Clinical	NP_001345192.1:p.Ile549Leu
XM_024447969.1:c.1645A>C	XP_024303737.1:p.Ile549Leu
NM_000188.3:c.1633A>C MANE Select	NP_000179.2:p.Ile545Leu
NM_001322364.2:c.1645A>C	NP_001309293.1:p.Ile549Leu
NM_001322365.2:c.1738A>C	NP_001309294.1:p.Ile580Leu
NM_033496.3:c.1630A>C	NP_277031.1:p.Ile544Leu
NM_033497.3:c.1645A>C	NP_277032.1:p.Ile549Leu
NM_033498.3:c.1645A>C	NP_277033.1:p.Ile549Leu