Canonical Allele Identifier: CA470276406

Gene: HK1

Linked Data

• ClinVar Variation Id: 1134199
• ClinVar RCV Id: RCV001469035
• dbSNP Id: rs1445042671
• gnomAD v2: 10-71142294-T-C
• gnomAD v3: 10-69382538-T-C
• gnomAD v4: 10-69382538-T-C
• MyVariant Identifiers: chr10:g.71142294T>C (hg19) ; chr10:g.69382538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382538T>C , CM000672.2:g.69382538T>C	GRCh38
NC_000010.10:g.71142294T>C , CM000672.1:g.71142294T>C	GRCh37
NC_000010.9:g.70812300T>C	NCBI36
NG_012077.1:g.117539T>C , LRG_365:g.117539T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1317T>C	ENSP00000515580.1:p.Asp439=
ENST00000703945.1:c.1233T>C	ENSP00000515578.1:p.Asp411=
ENST00000703946.1:c.1265+2443T>C	ENSP00000515579.1:n.1265+2443T>C
ENST00000703947.1:c.927T>C	ENSP00000515581.1:p.Asp309=
ENST00000703948.1:c.*934T>C	ENSP00000515582.1:n.*934T>C
ENST00000703949.1:c.1317T>C	ENSP00000515583.1:p.Asp439=
ENST00000703950.1:c.1317T>C	ENSP00000515584.1:p.Asp439=
ENST00000703951.1:c.1265+2443T>C	ENSP00000515585.1:n.1265+2443T>C
ENST00000703952.1:c.1265+2443T>C	ENSP00000515586.1:n.1265+2443T>C
ENST00000703953.1:c.*580T>C	ENSP00000515587.1:n.*580T>C
ENST00000703954.1:c.1197T>C	ENSP00000515588.1:p.Asp399=
ENST00000703955.1:n.1867T>C
ENST00000298649.8:c.1314T>C	ENSP00000298649.3:p.Asp438=
ENST00000359426.7:c.1317T>C MANE Select	ENSP00000352398.6:p.Asp439=
ENST00000436817.6:c.1329T>C	ENSP00000415949.2:p.Asp443=
ENST00000493591.6:c.*1205T>C	ENSP00000494917.1:n.*1205T>C
ENST00000643399.2:c.1329T>C MANE Plus Clinical	ENSP00000494664.1:p.Asp443=
ENST00000298649.7:c.1314T>C	ENSP00000298649.3:p.Asp438=
ENST00000359426.6:c.1317T>C	ENSP00000352398.6:p.Asp439=
ENST00000360289.6:c.1281T>C	ENSP00000353433.2:p.Asp427=
ENST00000448642.6:c.1329T>C	ENSP00000402103.3:p.Asp443=
ENST00000494253.1:n.1543T>C
NM_000188.2:c.1317T>C	NP_000179.2:p.Asp439=
NM_033496.2:c.1314T>C	NP_277031.1:p.Asp438=
NM_033497.2:c.1329T>C	NP_277032.1:p.Asp443=
NM_033498.2:c.1329T>C	NP_277033.1:p.Asp443=
NM_033500.2:c.1281T>C , LRG_365t1:c.1281T>C	NP_277035.2:p.Asp427=
XM_005269735.2:c.1446T>C	XP_005269792.1:p.Asp482=
XM_005269736.1:c.1329T>C	XP_005269793.1:p.Asp443=
XM_005269737.1:c.1233T>C	XP_005269794.1:p.Asp411=
XM_011539732.1:c.1281T>C	XP_011538034.1:p.Asp427=
XM_011539733.1:c.1275T>C	XP_011538035.1:p.Asp425=
XM_011539734.1:c.1272T>C	XP_011538036.1:p.Asp424=
NM_001322364.1:c.1329T>C	NP_001309293.1:p.Asp443=
NM_001322365.1:c.1422T>C	NP_001309294.1:p.Asp474=
NM_001322366.1:c.1233T>C	NP_001309295.1:p.Asp411=
NM_001322367.1:c.1221T>C	NP_001309296.1:p.Asp407=
NM_001358263.1:c.1329T>C MANE Plus Clinical	NP_001345192.1:p.Asp443=
XM_024447969.1:c.1329T>C	XP_024303737.1:p.Asp443=
NM_000188.3:c.1317T>C MANE Select	NP_000179.2:p.Asp439=
NM_001322364.2:c.1329T>C	NP_001309293.1:p.Asp443=
NM_001322365.2:c.1422T>C	NP_001309294.1:p.Asp474=
NM_033496.3:c.1314T>C	NP_277031.1:p.Asp438=
NM_033497.3:c.1329T>C	NP_277032.1:p.Asp443=
NM_033498.3:c.1329T>C	NP_277033.1:p.Asp443=