Canonical Allele Identifier: CA384555780
Community Standard Title: NM_000289.6(PFKM):c.2023T>G (p.Phe675Val)
Gene: PFKM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48145061T>G , CM000674.2:g.48145061T>G GRCh38
NC_000012.11:g.48538844T>G , CM000674.1:g.48538844T>G GRCh37
NC_000012.10:g.46825111T>G NCBI36
NG_016199.1:g.44189T>G
NG_016199.2:g.44809T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000289.6:c.2023T>G MANE Select NP_000280.1:p.Phe675Val
ENST00000359794.11:c.2023T>G MANE Select ENSP00000352842.5:p.Phe675Val
NM_000289.5:c.2023T>G NP_000280.1:p.Phe675Val
NM_001166686.1:c.2236T>G NP_001160158.1:p.Phe746Val
NM_001166686.2:c.2236T>G NP_001160158.1:p.Phe746Val
NM_001166687.1:c.2023T>G NP_001160159.1:p.Phe675Val
NM_001166687.2:c.2023T>G NP_001160159.1:p.Phe675Val
NM_001166688.1:c.2023T>G NP_001160160.1:p.Phe675Val
NM_001166688.2:c.2023T>G NP_001160160.1:p.Phe675Val
NM_001354735.1:c.2332T>G NP_001341664.1:p.Phe778Val
NM_001354736.1:c.2332T>G NP_001341665.1:p.Phe778Val
NM_001354737.1:c.2236T>G NP_001341666.1:p.Phe746Val
NM_001354738.1:c.2236T>G NP_001341667.1:p.Phe746Val
NM_001354739.1:c.2236T>G NP_001341668.1:p.Phe746Val
NM_001354740.1:c.2167T>G NP_001341669.1:p.Phe723Val
NM_001354741.1:c.2047T>G NP_001341670.1:p.Phe683Val
NM_001354741.2:c.2047T>G NP_001341670.1:p.Phe683Val
NM_001354742.1:c.2023T>G NP_001341671.1:p.Phe675Val
NM_001354742.2:c.2023T>G NP_001341671.1:p.Phe675Val
NM_001354743.1:c.2023T>G NP_001341672.1:p.Phe675Val
NM_001354743.2:c.2023T>G NP_001341672.1:p.Phe675Val
NM_001354744.1:c.2023T>G NP_001341673.1:p.Phe675Val
NM_001354744.2:c.2023T>G NP_001341673.1:p.Phe675Val
NM_001354745.1:c.1936T>G NP_001341674.1:p.Phe646Val
NM_001354745.2:c.1936T>G NP_001341674.1:p.Phe646Val
NM_001354746.1:c.1897T>G NP_001341675.1:p.Phe633Val
NM_001354746.2:c.1897T>G NP_001341675.1:p.Phe633Val
NM_001354747.1:c.1873T>G NP_001341676.1:p.Phe625Val
NM_001354747.2:c.1873T>G NP_001341676.1:p.Phe625Val
NM_001354748.1:c.1873T>G NP_001341677.1:p.Phe625Val
NM_001354748.2:c.1873T>G NP_001341677.1:p.Phe625Val
NM_001363619.1:c.1930T>G NP_001350548.1:p.Phe644Val
NM_001363619.2:c.1930T>G NP_001350548.1:p.Phe644Val
NR_148954.1:n.2460T>G
NR_148954.2:n.2326T>G
NR_148955.1:n.3096T>G
NR_148956.1:n.2386T>G
NR_148956.2:n.2252T>G
NR_148957.1:n.2615T>G
NR_148957.2:n.2481T>G
NR_148958.1:n.2363T>G
NR_148958.2:n.2229T>G
NR_148959.1:n.2289T>G
NR_148959.2:n.2155T>G
ENST00000312352.11:c.2023T>G ENSP00000309438.7:p.Phe675Val
ENST00000340802.10:c.2236T>G ENSP00000345771.6:p.Phe746Val
ENST00000340802.12:c.2236T>G ENSP00000345771.6:p.Phe746Val
ENST00000359794.9:c.2023T>G ENSP00000352842.5:p.Phe675Val
ENST00000546964.5:n.2347T>G
ENST00000547581.5:c.*2291T>G ENSP00000447992.1:n.*2291T>G
ENST00000547587.5:c.2023T>G ENSP00000449426.1:p.Phe675Val
ENST00000549941.7:c.1765T>G ENSP00000446829.3:p.Phe589Val
ENST00000550257.7:c.2245T>G ENSP00000447997.3:p.Phe749Val
ENST00000550345.6:c.2023T>G ENSP00000450369.2:p.Phe675Val
ENST00000550924.6:c.2023T>G ENSP00000446945.2:p.Phe675Val
ENST00000551339.6:c.2023T>G ENSP00000448253.2:p.Phe675Val
ENST00000551804.5:c.1930T>G ENSP00000448177.1:p.Phe644Val
ENST00000642730.1:c.2332T>G ENSP00000496597.1:p.Phe778Val
XM_005268974.1:c.2332T>G XP_005269031.1:p.Phe778Val
XM_005268975.1:c.2332T>G XP_005269032.1:p.Phe778Val
XM_005268976.2:c.2332T>G XP_005269033.1:p.Phe778Val
XM_005268976.3:c.2332T>G XP_005269033.1:p.Phe778Val
XM_005268977.1:c.2236T>G XP_005269034.1:p.Phe746Val
XM_005268978.2:c.2236T>G XP_005269035.1:p.Phe746Val
XM_005268979.1:c.2236T>G XP_005269036.1:p.Phe746Val
XM_011538487.1:c.2239T>G XP_011536789.1:p.Phe747Val
XM_011538488.1:c.2023T>G XP_011536790.1:p.Phe675Val
XM_017019469.1:c.2143T>G XP_016874958.1:p.Phe715Val
XM_024449020.1:c.2245T>G XP_024304788.1:p.Phe749Val
XM_024449021.1:c.2122T>G XP_024304789.1:p.Phe708Val
XM_024449022.1:c.2023T>G XP_024304790.1:p.Phe675Val