Canonical Allele Identifier: CA16619532
Gene: PFKM HGNC NCBI

Linked Data

ClinVar Variation Id: 422391
dbSNP Id: rs1064795749

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48130392C>T , CM000674.2:g.48130392C>T GRCh38
NC_000012.11:g.48524175C>T , CM000674.1:g.48524175C>T GRCh37
NC_000012.10:g.46810442C>T NCBI36
NG_016199.1:g.29520C>T
NG_016199.2:g.30140C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000550257.7:c.337C>T ENSP00000447997.3:p.Arg113Ter
ENST00000340802.12:c.328C>T ENSP00000345771.6:p.Arg110Ter
ENST00000359794.11:c.115C>T MANE Select ENSP00000352842.5:p.Arg39Ter
ENST00000549941.7:c.115C>T ENSP00000446829.3:p.Arg39Ter
ENST00000550257.6:c.223C>T ENSP00000447997.2:p.Arg75Ter
ENST00000550345.6:c.115C>T ENSP00000450369.2:p.Arg39Ter
ENST00000550924.6:c.115C>T ENSP00000446945.2:p.Arg39Ter
ENST00000551339.6:c.115C>T ENSP00000448253.2:p.Arg39Ter
ENST00000642730.1:c.424C>T ENSP00000496597.1:p.Arg142Ter
ENST00000312352.11:c.115C>T ENSP00000309438.7:p.Arg39Ter
ENST00000340802.10:c.328C>T ENSP00000345771.6:p.Arg110Ter
ENST00000359794.9:c.115C>T ENSP00000352842.5:p.Arg39Ter
ENST00000546465.1:c.85+7533C>T ENSP00000446519.1:n.85+7533C>T
ENST00000546964.5:n.187C>T
ENST00000547066.5:c.*131C>T ENSP00000448318.1:n.*131C>T
ENST00000547581.5:c.*131C>T ENSP00000447992.1:n.*131C>T
ENST00000547587.5:c.115C>T ENSP00000449426.1:p.Arg39Ter
ENST00000548288.5:c.328C>T ENSP00000448018.1:p.Arg110Ter
ENST00000548345.5:c.115C>T ENSP00000449269.1:p.Arg39Ter
ENST00000548720.5:n.182C>T
ENST00000549003.5:c.115C>T ENSP00000449835.1:p.Arg39Ter
ENST00000549022.5:c.115C>T ENSP00000446805.1:p.Arg39Ter
ENST00000549366.5:c.424C>T ENSP00000449622.1:p.Arg142Ter
ENST00000549941.5:c.214C>T ENSP00000446829.1:p.Arg72Ter
ENST00000550257.5:c.337C>T ENSP00000447997.1:p.Arg113Ter
ENST00000550345.5:c.115C>T ENSP00000450369.1:p.Arg39Ter
ENST00000550924.5:c.115C>T ENSP00000446945.1:p.Arg39Ter
ENST00000551339.5:c.115C>T ENSP00000448253.1:p.Arg39Ter
ENST00000551485.5:c.115C>T ENSP00000448315.1:p.Arg39Ter
ENST00000551548.5:n.178C>T
ENST00000551804.5:c.115C>T ENSP00000448177.1:p.Arg39Ter
ENST00000552792.5:c.328C>T ENSP00000448940.1:p.Arg110Ter
ENST00000552989.5:c.86-3847C>T ENSP00000447774.1:n.86-3847C>T
ENST00000629846.2:c.115C>T ENSP00000486196.1:p.Arg39Ter
NM_000289.5:c.115C>T NP_000280.1:p.Arg39Ter
NM_001166686.1:c.328C>T NP_001160158.1:p.Arg110Ter
NM_001166687.1:c.115C>T NP_001160159.1:p.Arg39Ter
NM_001166688.1:c.115C>T NP_001160160.1:p.Arg39Ter
XM_005268974.1:c.424C>T XP_005269031.1:p.Arg142Ter
XM_005268975.1:c.424C>T XP_005269032.1:p.Arg142Ter
XM_005268976.2:c.424C>T XP_005269033.1:p.Arg142Ter
XM_005268977.1:c.328C>T XP_005269034.1:p.Arg110Ter
XM_005268978.2:c.328C>T XP_005269035.1:p.Arg110Ter
XM_005268979.1:c.328C>T XP_005269036.1:p.Arg110Ter
XM_011538487.1:c.424C>T XP_011536789.1:p.Arg142Ter
XM_011538488.1:c.115C>T XP_011536790.1:p.Arg39Ter
NM_000289.6:c.115C>T MANE Select NP_000280.1:p.Arg39Ter
NM_001166686.2:c.328C>T NP_001160158.1:p.Arg110Ter
NM_001354735.1:c.424C>T NP_001341664.1:p.Arg142Ter
NM_001354736.1:c.424C>T NP_001341665.1:p.Arg142Ter
NM_001354737.1:c.328C>T NP_001341666.1:p.Arg110Ter
NM_001354738.1:c.328C>T NP_001341667.1:p.Arg110Ter
NM_001354739.1:c.328C>T NP_001341668.1:p.Arg110Ter
NM_001354740.1:c.259C>T NP_001341669.1:p.Arg87Ter
NM_001354741.1:c.139C>T NP_001341670.1:p.Arg47Ter
NM_001354742.1:c.115C>T NP_001341671.1:p.Arg39Ter
NM_001354743.1:c.115C>T NP_001341672.1:p.Arg39Ter
NM_001354744.1:c.115C>T NP_001341673.1:p.Arg39Ter
NM_001354745.1:c.28C>T NP_001341674.1:p.Arg10Ter
NM_001354746.1:c.115C>T NP_001341675.1:p.Arg39Ter
NM_001354747.1:c.10-924C>T NP_001341676.1:n.10-924C>T
NM_001354748.1:c.10-924C>T NP_001341677.1:n.10-924C>T
NM_001363619.1:c.115C>T NP_001350548.1:p.Arg39Ter
NR_148954.1:n.300C>T
NR_148955.1:n.936C>T
NR_148956.1:n.271-924C>T
NR_148957.1:n.300C>T
NR_148958.1:n.300C>T
NR_148959.1:n.271-924C>T
XM_005268976.3:c.424C>T XP_005269033.1:p.Arg142Ter
XM_017019469.1:c.328C>T XP_016874958.1:p.Arg110Ter
XM_024449020.1:c.337C>T XP_024304788.1:p.Arg113Ter
XM_024449021.1:c.214C>T XP_024304789.1:p.Arg72Ter
XM_024449022.1:c.115C>T XP_024304790.1:p.Arg39Ter
NM_001166687.2:c.115C>T NP_001160159.1:p.Arg39Ter
NM_001166688.2:c.115C>T NP_001160160.1:p.Arg39Ter
NM_001354741.2:c.139C>T NP_001341670.1:p.Arg47Ter
NM_001354742.2:c.115C>T NP_001341671.1:p.Arg39Ter
NM_001354743.2:c.115C>T NP_001341672.1:p.Arg39Ter
NM_001354744.2:c.115C>T NP_001341673.1:p.Arg39Ter
NM_001354745.2:c.28C>T NP_001341674.1:p.Arg10Ter
NM_001354746.2:c.115C>T NP_001341675.1:p.Arg39Ter
NM_001354747.2:c.10-924C>T NP_001341676.1:n.10-924C>T
NM_001354748.2:c.10-924C>T NP_001341677.1:n.10-924C>T
NM_001363619.2:c.115C>T NP_001350548.1:p.Arg39Ter
NR_148954.2:n.166C>T
NR_148956.2:n.137-924C>T
NR_148957.2:n.166C>T
NR_148958.2:n.166C>T
NR_148959.2:n.137-924C>T