Canonical Allele Identifier: CA479452894
Community Standard Title: NM_000289.6(PFKM):c.864A>G (p.Gly288=)
Gene: PFKM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48135311A>G , CM000674.2:g.48135311A>G GRCh38
NC_000012.11:g.48529094A>G , CM000674.1:g.48529094A>G GRCh37
NC_000012.10:g.46815361A>G NCBI36
NG_016199.1:g.34439A>G
NG_016199.2:g.35059A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000289.6:c.864A>G MANE Select NP_000280.1:p.Gly288=
ENST00000359794.11:c.864A>G MANE Select ENSP00000352842.5:p.Gly288=
NM_000289.5:c.864A>G NP_000280.1:p.Gly288=
NM_001166686.1:c.1077A>G NP_001160158.1:p.Gly359=
NM_001166686.2:c.1077A>G NP_001160158.1:p.Gly359=
NM_001166687.1:c.864A>G NP_001160159.1:p.Gly288=
NM_001166687.2:c.864A>G NP_001160159.1:p.Gly288=
NM_001166688.1:c.864A>G NP_001160160.1:p.Gly288=
NM_001166688.2:c.864A>G NP_001160160.1:p.Gly288=
NM_001354735.1:c.1173A>G NP_001341664.1:p.Gly391=
NM_001354736.1:c.1173A>G NP_001341665.1:p.Gly391=
NM_001354737.1:c.1077A>G NP_001341666.1:p.Gly359=
NM_001354738.1:c.1077A>G NP_001341667.1:p.Gly359=
NM_001354739.1:c.1077A>G NP_001341668.1:p.Gly359=
NM_001354740.1:c.1008A>G NP_001341669.1:p.Gly336=
NM_001354741.1:c.888A>G NP_001341670.1:p.Gly296=
NM_001354741.2:c.888A>G NP_001341670.1:p.Gly296=
NM_001354742.1:c.864A>G NP_001341671.1:p.Gly288=
NM_001354742.2:c.864A>G NP_001341671.1:p.Gly288=
NM_001354743.1:c.864A>G NP_001341672.1:p.Gly288=
NM_001354743.2:c.864A>G NP_001341672.1:p.Gly288=
NM_001354744.1:c.864A>G NP_001341673.1:p.Gly288=
NM_001354744.2:c.864A>G NP_001341673.1:p.Gly288=
NM_001354745.1:c.777A>G NP_001341674.1:p.Gly259=
NM_001354745.2:c.777A>G NP_001341674.1:p.Gly259=
NM_001354746.1:c.864A>G NP_001341675.1:p.Gly288=
NM_001354746.2:c.864A>G NP_001341675.1:p.Gly288=
NM_001354747.1:c.714A>G NP_001341676.1:p.Gly238=
NM_001354747.2:c.714A>G NP_001341676.1:p.Gly238=
NM_001354748.1:c.714A>G NP_001341677.1:p.Gly238=
NM_001354748.2:c.714A>G NP_001341677.1:p.Gly238=
NM_001363619.1:c.843+273A>G NP_001350548.1:n.843+273A>G
NM_001363619.2:c.843+273A>G NP_001350548.1:n.843+273A>G
NR_148954.1:n.1301A>G
NR_148954.2:n.1167A>G
NR_148955.1:n.1937A>G
NR_148956.1:n.1227A>G
NR_148956.2:n.1093A>G
NR_148957.1:n.1301A>G
NR_148957.2:n.1167A>G
NR_148958.1:n.1049A>G
NR_148958.2:n.915A>G
NR_148959.1:n.975A>G
NR_148959.2:n.841A>G
ENST00000312352.11:c.864A>G ENSP00000309438.7:p.Gly288=
ENST00000340802.10:c.1077A>G ENSP00000345771.6:p.Gly359=
ENST00000340802.12:c.1077A>G ENSP00000345771.6:p.Gly359=
ENST00000359794.9:c.864A>G ENSP00000352842.5:p.Gly288=
ENST00000546465.1:c.86-5460A>G ENSP00000446519.1:n.86-5460A>G
ENST00000546964.5:n.1188A>G
ENST00000547581.5:c.*1132A>G ENSP00000447992.1:n.*1132A>G
ENST00000547587.5:c.864A>G ENSP00000449426.1:p.Gly288=
ENST00000549941.7:c.843+273A>G ENSP00000446829.3:n.843+273A>G
ENST00000550257.7:c.1086A>G ENSP00000447997.3:p.Gly362=
ENST00000550345.6:c.864A>G ENSP00000450369.2:p.Gly288=
ENST00000550924.6:c.864A>G ENSP00000446945.2:p.Gly288=
ENST00000551339.6:c.864A>G ENSP00000448253.2:p.Gly288=
ENST00000551804.5:c.843+273A>G ENSP00000448177.1:n.843+273A>G
ENST00000552989.5:c.*169A>G ENSP00000447774.1:n.*169A>G
ENST00000642730.1:c.1173A>G ENSP00000496597.1:p.Gly391=
XM_005268974.1:c.1173A>G XP_005269031.1:p.Gly391=
XM_005268975.1:c.1173A>G XP_005269032.1:p.Gly391=
XM_005268976.2:c.1173A>G XP_005269033.1:p.Gly391=
XM_005268976.3:c.1173A>G XP_005269033.1:p.Gly391=
XM_005268977.1:c.1077A>G XP_005269034.1:p.Gly359=
XM_005268978.2:c.1077A>G XP_005269035.1:p.Gly359=
XM_005268979.1:c.1077A>G XP_005269036.1:p.Gly359=
XM_011538487.1:c.1152+273A>G XP_011536789.1:n.1152+273A>G
XM_011538488.1:c.864A>G XP_011536790.1:p.Gly288=
XM_017019469.1:c.1056+273A>G XP_016874958.1:n.1056+273A>G
XM_024449020.1:c.1086A>G XP_024304788.1:p.Gly362=
XM_024449021.1:c.963A>G XP_024304789.1:p.Gly321=
XM_024449022.1:c.864A>G XP_024304790.1:p.Gly288=