Canonical Allele Identifier: CA376909671

Gene: HK1

Linked Data

• MyVariant Identifiers: chr10:g.71142326G>C (hg19) ; chr10:g.69382570G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382570G>C , CM000672.2:g.69382570G>C	GRCh38
NC_000010.10:g.71142326G>C , CM000672.1:g.71142326G>C	GRCh37
NC_000010.9:g.70812332G>C	NCBI36
NG_012077.1:g.117571G>C , LRG_365:g.117571G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1349G>C	ENSP00000515580.1:p.Gly450Ala
ENST00000703945.1:c.1265G>C	ENSP00000515578.1:p.Gly422Ala
ENST00000703946.1:c.1265+2475G>C	ENSP00000515579.1:n.1265+2475G>C
ENST00000703947.1:c.959G>C	ENSP00000515581.1:p.Gly320Ala
ENST00000703948.1:c.*966G>C	ENSP00000515582.1:n.*966G>C
ENST00000703949.1:c.1349G>C	ENSP00000515583.1:p.Gly450Ala
ENST00000703950.1:c.1349G>C	ENSP00000515584.1:p.Gly450Ala
ENST00000703951.1:c.1265+2475G>C	ENSP00000515585.1:n.1265+2475G>C
ENST00000703952.1:c.1265+2475G>C	ENSP00000515586.1:n.1265+2475G>C
ENST00000703953.1:c.*612G>C	ENSP00000515587.1:n.*612G>C
ENST00000703954.1:c.1229G>C	ENSP00000515588.1:p.Gly410Ala
ENST00000703955.1:n.1899G>C
ENST00000298649.8:c.1346G>C	ENSP00000298649.3:p.Gly449Ala
ENST00000359426.7:c.1349G>C MANE Select	ENSP00000352398.6:p.Gly450Ala
ENST00000436817.6:c.1361G>C	ENSP00000415949.2:p.Gly454Ala
ENST00000493591.6:c.*1237G>C	ENSP00000494917.1:n.*1237G>C
ENST00000643399.2:c.1361G>C MANE Plus Clinical	ENSP00000494664.1:p.Gly454Ala
ENST00000298649.7:c.1346G>C	ENSP00000298649.3:p.Gly449Ala
ENST00000359426.6:c.1349G>C	ENSP00000352398.6:p.Gly450Ala
ENST00000360289.6:c.1313G>C	ENSP00000353433.2:p.Gly438Ala
ENST00000448642.6:c.1361G>C	ENSP00000402103.3:p.Gly454Ala
ENST00000494253.1:n.1575G>C
NM_000188.2:c.1349G>C	NP_000179.2:p.Gly450Ala
NM_033496.2:c.1346G>C	NP_277031.1:p.Gly449Ala
NM_033497.2:c.1361G>C	NP_277032.1:p.Gly454Ala
NM_033498.2:c.1361G>C	NP_277033.1:p.Gly454Ala
NM_033500.2:c.1313G>C , LRG_365t1:c.1313G>C	NP_277035.2:p.Gly438Ala
XM_005269735.2:c.1478G>C	XP_005269792.1:p.Gly493Ala
XM_005269736.1:c.1361G>C	XP_005269793.1:p.Gly454Ala
XM_005269737.1:c.1265G>C	XP_005269794.1:p.Gly422Ala
XM_011539732.1:c.1313G>C	XP_011538034.1:p.Gly438Ala
XM_011539733.1:c.1307G>C	XP_011538035.1:p.Gly436Ala
XM_011539734.1:c.1304G>C	XP_011538036.1:p.Gly435Ala
NM_001322364.1:c.1361G>C	NP_001309293.1:p.Gly454Ala
NM_001322365.1:c.1454G>C	NP_001309294.1:p.Gly485Ala
NM_001322366.1:c.1265G>C	NP_001309295.1:p.Gly422Ala
NM_001322367.1:c.1253G>C	NP_001309296.1:p.Gly418Ala
NM_001358263.1:c.1361G>C MANE Plus Clinical	NP_001345192.1:p.Gly454Ala
XM_024447969.1:c.1361G>C	XP_024303737.1:p.Gly454Ala
NM_000188.3:c.1349G>C MANE Select	NP_000179.2:p.Gly450Ala
NM_001322364.2:c.1361G>C	NP_001309293.1:p.Gly454Ala
NM_001322365.2:c.1454G>C	NP_001309294.1:p.Gly485Ala
NM_033496.3:c.1346G>C	NP_277031.1:p.Gly449Ala
NM_033497.3:c.1361G>C	NP_277032.1:p.Gly454Ala
NM_033498.3:c.1361G>C	NP_277033.1:p.Gly454Ala