Canonical Allele Identifier: CA5532654

Gene: HK1

Linked Data

• ClinVar Variation Id: 1353963
• ClinVar RCV Id: RCV001863692
• dbSNP Id: rs751869864
• ExAC: 10:71144209 T / C
• gnomAD v2: 10-71144209-T-C
• gnomAD v3: 10-69384453-T-C
• gnomAD v4: 10-69384453-T-C
• MyVariant Identifiers: chr10:g.71144209T>C (hg19) ; chr10:g.69384453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69384453T>C , CM000672.2:g.69384453T>C	GRCh38
NC_000010.10:g.71144209T>C , CM000672.1:g.71144209T>C	GRCh37
NC_000010.9:g.70814215T>C	NCBI36
NG_012077.1:g.119454T>C , LRG_365:g.119454T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1691T>C	ENSP00000515580.1:p.Ile564Thr
ENST00000703945.1:c.1607T>C	ENSP00000515578.1:p.Ile536Thr
ENST00000703946.1:c.1265+4358T>C	ENSP00000515579.1:n.1265+4358T>C
ENST00000703947.1:c.1301T>C	ENSP00000515581.1:p.Ile434Thr
ENST00000703948.1:c.*1308T>C	ENSP00000515582.1:n.*1308T>C
ENST00000703949.1:c.1691T>C	ENSP00000515583.1:p.Ile564Thr
ENST00000703950.1:c.1691T>C	ENSP00000515584.1:p.Ile564Thr
ENST00000703951.1:c.1265+4358T>C	ENSP00000515585.1:n.1265+4358T>C
ENST00000703952.1:c.1265+4358T>C	ENSP00000515586.1:n.1265+4358T>C
ENST00000703953.1:c.*954T>C	ENSP00000515587.1:n.*954T>C
ENST00000703954.1:c.1571T>C	ENSP00000515588.1:p.Ile524Thr
ENST00000703955.1:n.2241T>C
ENST00000703957.1:n.196T>C
ENST00000298649.8:c.1688T>C	ENSP00000298649.3:p.Ile563Thr
ENST00000359426.7:c.1691T>C MANE Select	ENSP00000352398.6:p.Ile564Thr
ENST00000436817.6:c.1703T>C	ENSP00000415949.2:p.Ile568Thr
ENST00000493591.6:c.*1579T>C	ENSP00000494917.1:n.*1579T>C
ENST00000643399.2:c.1703T>C MANE Plus Clinical	ENSP00000494664.1:p.Ile568Thr
ENST00000298649.7:c.1688T>C	ENSP00000298649.3:p.Ile563Thr
ENST00000359426.6:c.1691T>C	ENSP00000352398.6:p.Ile564Thr
ENST00000360289.6:c.1655T>C	ENSP00000353433.2:p.Ile552Thr
ENST00000448642.6:c.1703T>C	ENSP00000402103.3:p.Ile568Thr
ENST00000494253.1:n.1917T>C
NM_000188.2:c.1691T>C	NP_000179.2:p.Ile564Thr
NM_033496.2:c.1688T>C	NP_277031.1:p.Ile563Thr
NM_033497.2:c.1703T>C	NP_277032.1:p.Ile568Thr
NM_033498.2:c.1703T>C	NP_277033.1:p.Ile568Thr
NM_033500.2:c.1655T>C , LRG_365t1:c.1655T>C	NP_277035.2:p.Ile552Thr
XM_005269735.2:c.1820T>C	XP_005269792.1:p.Ile607Thr
XM_005269736.1:c.1703T>C	XP_005269793.1:p.Ile568Thr
XM_005269737.1:c.1607T>C	XP_005269794.1:p.Ile536Thr
XM_011539732.1:c.1655T>C	XP_011538034.1:p.Ile552Thr
XM_011539733.1:c.1649T>C	XP_011538035.1:p.Ile550Thr
XM_011539734.1:c.1646T>C	XP_011538036.1:p.Ile549Thr
NM_001322364.1:c.1703T>C	NP_001309293.1:p.Ile568Thr
NM_001322365.1:c.1796T>C	NP_001309294.1:p.Ile599Thr
NM_001322366.1:c.1607T>C	NP_001309295.1:p.Ile536Thr
NM_001322367.1:c.1595T>C	NP_001309296.1:p.Ile532Thr
NM_001358263.1:c.1703T>C MANE Plus Clinical	NP_001345192.1:p.Ile568Thr
XM_024447969.1:c.1703T>C	XP_024303737.1:p.Ile568Thr
NM_000188.3:c.1691T>C MANE Select	NP_000179.2:p.Ile564Thr
NM_001322364.2:c.1703T>C	NP_001309293.1:p.Ile568Thr
NM_001322365.2:c.1796T>C	NP_001309294.1:p.Ile599Thr
NM_033496.3:c.1688T>C	NP_277031.1:p.Ile563Thr
NM_033497.3:c.1703T>C	NP_277032.1:p.Ile568Thr
NM_033498.3:c.1703T>C	NP_277033.1:p.Ile568Thr