Canonical Allele Identifier: CA384541447
Gene: PFKM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48132878T>G , CM000674.2:g.48132878T>G GRCh38
NC_000012.11:g.48526661T>G , CM000674.1:g.48526661T>G GRCh37
NC_000012.10:g.46812928T>G NCBI36
NG_016199.1:g.32006T>G
NG_016199.2:g.32626T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000550257.7:c.470T>G ENSP00000447997.3:p.Val157Gly
ENST00000340802.12:c.461T>G ENSP00000345771.6:p.Val154Gly
ENST00000359794.11:c.248T>G MANE Select ENSP00000352842.5:p.Val83Gly
ENST00000549941.7:c.248T>G ENSP00000446829.3:p.Val83Gly
ENST00000550345.6:c.248T>G ENSP00000450369.2:p.Val83Gly
ENST00000550924.6:c.248T>G ENSP00000446945.2:p.Val83Gly
ENST00000551339.6:c.248T>G ENSP00000448253.2:p.Val83Gly
ENST00000642730.1:c.557T>G ENSP00000496597.1:p.Val186Gly
ENST00000312352.11:c.248T>G ENSP00000309438.7:p.Val83Gly
ENST00000340802.10:c.461T>G ENSP00000345771.6:p.Val154Gly
ENST00000359794.9:c.248T>G ENSP00000352842.5:p.Val83Gly
ENST00000546465.1:c.86-7893T>G ENSP00000446519.1:n.86-7893T>G
ENST00000546964.5:n.320T>G
ENST00000547581.5:c.*264T>G ENSP00000447992.1:n.*264T>G
ENST00000547587.5:c.248T>G ENSP00000449426.1:p.Val83Gly
ENST00000548345.5:c.248T>G ENSP00000449269.1:p.Val83Gly
ENST00000549003.5:c.248T>G ENSP00000449835.1:p.Val83Gly
ENST00000549022.5:c.248T>G ENSP00000446805.1:p.Val83Gly
ENST00000549941.5:c.347T>G ENSP00000446829.1:p.Val116Gly
ENST00000550345.5:c.248T>G ENSP00000450369.1:p.Val83Gly
ENST00000550924.5:c.248T>G ENSP00000446945.1:p.Val83Gly
ENST00000551339.5:c.248T>G ENSP00000448253.1:p.Val83Gly
ENST00000551485.5:c.*132T>G ENSP00000448315.1:n.*132T>G
ENST00000551804.5:c.248T>G ENSP00000448177.1:p.Val83Gly
ENST00000552989.5:c.86-1361T>G ENSP00000447774.1:n.86-1361T>G
NM_000289.5:c.248T>G NP_000280.1:p.Val83Gly
NM_001166686.1:c.461T>G NP_001160158.1:p.Val154Gly
NM_001166687.1:c.248T>G NP_001160159.1:p.Val83Gly
NM_001166688.1:c.248T>G NP_001160160.1:p.Val83Gly
XM_005268974.1:c.557T>G XP_005269031.1:p.Val186Gly
XM_005268975.1:c.557T>G XP_005269032.1:p.Val186Gly
XM_005268976.2:c.557T>G XP_005269033.1:p.Val186Gly
XM_005268977.1:c.461T>G XP_005269034.1:p.Val154Gly
XM_005268978.2:c.461T>G XP_005269035.1:p.Val154Gly
XM_005268979.1:c.461T>G XP_005269036.1:p.Val154Gly
XM_011538487.1:c.557T>G XP_011536789.1:p.Val186Gly
XM_011538488.1:c.248T>G XP_011536790.1:p.Val83Gly
NM_000289.6:c.248T>G MANE Select NP_000280.1:p.Val83Gly
NM_001166686.2:c.461T>G NP_001160158.1:p.Val154Gly
NM_001354735.1:c.557T>G NP_001341664.1:p.Val186Gly
NM_001354736.1:c.557T>G NP_001341665.1:p.Val186Gly
NM_001354737.1:c.461T>G NP_001341666.1:p.Val154Gly
NM_001354738.1:c.461T>G NP_001341667.1:p.Val154Gly
NM_001354739.1:c.461T>G NP_001341668.1:p.Val154Gly
NM_001354740.1:c.392T>G NP_001341669.1:p.Val131Gly
NM_001354741.1:c.272T>G NP_001341670.1:p.Val91Gly
NM_001354742.1:c.248T>G NP_001341671.1:p.Val83Gly
NM_001354743.1:c.248T>G NP_001341672.1:p.Val83Gly
NM_001354744.1:c.248T>G NP_001341673.1:p.Val83Gly
NM_001354745.1:c.161T>G NP_001341674.1:p.Val54Gly
NM_001354746.1:c.248T>G NP_001341675.1:p.Val83Gly
NM_001354747.1:c.98T>G NP_001341676.1:p.Val33Gly
NM_001354748.1:c.98T>G NP_001341677.1:p.Val33Gly
NM_001363619.1:c.248T>G NP_001350548.1:p.Val83Gly
NR_148954.1:n.433T>G
NR_148955.1:n.1069T>G
NR_148956.1:n.359T>G
NR_148957.1:n.433T>G
NR_148958.1:n.433T>G
NR_148959.1:n.359T>G
XM_005268976.3:c.557T>G XP_005269033.1:p.Val186Gly
XM_017019469.1:c.461T>G XP_016874958.1:p.Val154Gly
XM_024449020.1:c.470T>G XP_024304788.1:p.Val157Gly
XM_024449021.1:c.347T>G XP_024304789.1:p.Val116Gly
XM_024449022.1:c.248T>G XP_024304790.1:p.Val83Gly
NM_001166687.2:c.248T>G NP_001160159.1:p.Val83Gly
NM_001166688.2:c.248T>G NP_001160160.1:p.Val83Gly
NM_001354741.2:c.272T>G NP_001341670.1:p.Val91Gly
NM_001354742.2:c.248T>G NP_001341671.1:p.Val83Gly
NM_001354743.2:c.248T>G NP_001341672.1:p.Val83Gly
NM_001354744.2:c.248T>G NP_001341673.1:p.Val83Gly
NM_001354745.2:c.161T>G NP_001341674.1:p.Val54Gly
NM_001354746.2:c.248T>G NP_001341675.1:p.Val83Gly
NM_001354747.2:c.98T>G NP_001341676.1:p.Val33Gly
NM_001354748.2:c.98T>G NP_001341677.1:p.Val33Gly
NM_001363619.2:c.248T>G NP_001350548.1:p.Val83Gly
NR_148954.2:n.299T>G
NR_148956.2:n.225T>G
NR_148957.2:n.299T>G
NR_148958.2:n.299T>G
NR_148959.2:n.225T>G