Canonical Allele Identifier: CA376909568

Gene: HK1

Linked Data

• MyVariant Identifiers: chr10:g.71142278T>C (hg19) ; chr10:g.69382522T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382522T>C , CM000672.2:g.69382522T>C	GRCh38
NC_000010.10:g.71142278T>C , CM000672.1:g.71142278T>C	GRCh37
NC_000010.9:g.70812284T>C	NCBI36
NG_012077.1:g.117523T>C , LRG_365:g.117523T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1301T>C	ENSP00000515580.1:p.Leu434Ser
ENST00000703945.1:c.1217T>C	ENSP00000515578.1:p.Leu406Ser
ENST00000703946.1:c.1265+2427T>C	ENSP00000515579.1:n.1265+2427T>C
ENST00000703947.1:c.911T>C	ENSP00000515581.1:p.Leu304Ser
ENST00000703948.1:c.*918T>C	ENSP00000515582.1:n.*918T>C
ENST00000703949.1:c.1301T>C	ENSP00000515583.1:p.Leu434Ser
ENST00000703950.1:c.1301T>C	ENSP00000515584.1:p.Leu434Ser
ENST00000703951.1:c.1265+2427T>C	ENSP00000515585.1:n.1265+2427T>C
ENST00000703952.1:c.1265+2427T>C	ENSP00000515586.1:n.1265+2427T>C
ENST00000703953.1:c.*564T>C	ENSP00000515587.1:n.*564T>C
ENST00000703954.1:c.1181T>C	ENSP00000515588.1:p.Leu394Ser
ENST00000703955.1:n.1851T>C
ENST00000298649.8:c.1298T>C	ENSP00000298649.3:p.Leu433Ser
ENST00000359426.7:c.1301T>C MANE Select	ENSP00000352398.6:p.Leu434Ser
ENST00000436817.6:c.1313T>C	ENSP00000415949.2:p.Leu438Ser
ENST00000493591.6:c.*1189T>C	ENSP00000494917.1:n.*1189T>C
ENST00000643399.2:c.1313T>C MANE Plus Clinical	ENSP00000494664.1:p.Leu438Ser
ENST00000298649.7:c.1298T>C	ENSP00000298649.3:p.Leu433Ser
ENST00000359426.6:c.1301T>C	ENSP00000352398.6:p.Leu434Ser
ENST00000360289.6:c.1265T>C	ENSP00000353433.2:p.Leu422Ser
ENST00000448642.6:c.1313T>C	ENSP00000402103.3:p.Leu438Ser
ENST00000494253.1:n.1527T>C
NM_000188.2:c.1301T>C	NP_000179.2:p.Leu434Ser
NM_033496.2:c.1298T>C	NP_277031.1:p.Leu433Ser
NM_033497.2:c.1313T>C	NP_277032.1:p.Leu438Ser
NM_033498.2:c.1313T>C	NP_277033.1:p.Leu438Ser
NM_033500.2:c.1265T>C , LRG_365t1:c.1265T>C	NP_277035.2:p.Leu422Ser
XM_005269735.2:c.1430T>C	XP_005269792.1:p.Leu477Ser
XM_005269736.1:c.1313T>C	XP_005269793.1:p.Leu438Ser
XM_005269737.1:c.1217T>C	XP_005269794.1:p.Leu406Ser
XM_011539732.1:c.1265T>C	XP_011538034.1:p.Leu422Ser
XM_011539733.1:c.1259T>C	XP_011538035.1:p.Leu420Ser
XM_011539734.1:c.1256T>C	XP_011538036.1:p.Leu419Ser
NM_001322364.1:c.1313T>C	NP_001309293.1:p.Leu438Ser
NM_001322365.1:c.1406T>C	NP_001309294.1:p.Leu469Ser
NM_001322366.1:c.1217T>C	NP_001309295.1:p.Leu406Ser
NM_001322367.1:c.1205T>C	NP_001309296.1:p.Leu402Ser
NM_001358263.1:c.1313T>C MANE Plus Clinical	NP_001345192.1:p.Leu438Ser
XM_024447969.1:c.1313T>C	XP_024303737.1:p.Leu438Ser
NM_000188.3:c.1301T>C MANE Select	NP_000179.2:p.Leu434Ser
NM_001322364.2:c.1313T>C	NP_001309293.1:p.Leu438Ser
NM_001322365.2:c.1406T>C	NP_001309294.1:p.Leu469Ser
NM_033496.3:c.1298T>C	NP_277031.1:p.Leu433Ser
NM_033497.3:c.1313T>C	NP_277032.1:p.Leu438Ser
NM_033498.3:c.1313T>C	NP_277033.1:p.Leu438Ser