Canonical Allele Identifier: CA384555848
Gene: PFKM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48145092A>T , CM000674.2:g.48145092A>T GRCh38
NC_000012.11:g.48538875A>T , CM000674.1:g.48538875A>T GRCh37
NC_000012.10:g.46825142A>T NCBI36
NG_016199.1:g.44220A>T
NG_016199.2:g.44840A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000550257.7:c.2276A>T ENSP00000447997.3:p.Asn759Ile
ENST00000340802.12:c.2267A>T ENSP00000345771.6:p.Asn756Ile
ENST00000359794.11:c.2054A>T MANE Select ENSP00000352842.5:p.Asn685Ile
ENST00000549941.7:c.1796A>T ENSP00000446829.3:p.Asn599Ile
ENST00000550345.6:c.2054A>T ENSP00000450369.2:p.Asn685Ile
ENST00000550924.6:c.2054A>T ENSP00000446945.2:p.Asn685Ile
ENST00000551339.6:c.2054A>T ENSP00000448253.2:p.Asn685Ile
ENST00000642730.1:c.2363A>T ENSP00000496597.1:p.Asn788Ile
ENST00000312352.11:c.2054A>T ENSP00000309438.7:p.Asn685Ile
ENST00000340802.10:c.2267A>T ENSP00000345771.6:p.Asn756Ile
ENST00000359794.9:c.2054A>T ENSP00000352842.5:p.Asn685Ile
ENST00000546964.5:n.2378A>T
ENST00000547581.5:c.*2322A>T ENSP00000447992.1:n.*2322A>T
ENST00000547587.5:c.2054A>T ENSP00000449426.1:p.Asn685Ile
ENST00000551804.5:c.1961A>T ENSP00000448177.1:p.Asn654Ile
NM_000289.5:c.2054A>T NP_000280.1:p.Asn685Ile
NM_001166686.1:c.2267A>T NP_001160158.1:p.Asn756Ile
NM_001166687.1:c.2054A>T NP_001160159.1:p.Asn685Ile
NM_001166688.1:c.2054A>T NP_001160160.1:p.Asn685Ile
XM_005268974.1:c.2363A>T XP_005269031.1:p.Asn788Ile
XM_005268975.1:c.2363A>T XP_005269032.1:p.Asn788Ile
XM_005268976.2:c.2363A>T XP_005269033.1:p.Asn788Ile
XM_005268977.1:c.2267A>T XP_005269034.1:p.Asn756Ile
XM_005268978.2:c.2267A>T XP_005269035.1:p.Asn756Ile
XM_005268979.1:c.2267A>T XP_005269036.1:p.Asn756Ile
XM_011538487.1:c.2270A>T XP_011536789.1:p.Asn757Ile
XM_011538488.1:c.2054A>T XP_011536790.1:p.Asn685Ile
NM_000289.6:c.2054A>T MANE Select NP_000280.1:p.Asn685Ile
NM_001166686.2:c.2267A>T NP_001160158.1:p.Asn756Ile
NM_001354735.1:c.2363A>T NP_001341664.1:p.Asn788Ile
NM_001354736.1:c.2363A>T NP_001341665.1:p.Asn788Ile
NM_001354737.1:c.2267A>T NP_001341666.1:p.Asn756Ile
NM_001354738.1:c.2267A>T NP_001341667.1:p.Asn756Ile
NM_001354739.1:c.2267A>T NP_001341668.1:p.Asn756Ile
NM_001354740.1:c.2198A>T NP_001341669.1:p.Asn733Ile
NM_001354741.1:c.2078A>T NP_001341670.1:p.Asn693Ile
NM_001354742.1:c.2054A>T NP_001341671.1:p.Asn685Ile
NM_001354743.1:c.2054A>T NP_001341672.1:p.Asn685Ile
NM_001354744.1:c.2054A>T NP_001341673.1:p.Asn685Ile
NM_001354745.1:c.1967A>T NP_001341674.1:p.Asn656Ile
NM_001354746.1:c.1928A>T NP_001341675.1:p.Asn643Ile
NM_001354747.1:c.1904A>T NP_001341676.1:p.Asn635Ile
NM_001354748.1:c.1904A>T NP_001341677.1:p.Asn635Ile
NM_001363619.1:c.1961A>T NP_001350548.1:p.Asn654Ile
NR_148954.1:n.2491A>T
NR_148955.1:n.3127A>T
NR_148956.1:n.2417A>T
NR_148957.1:n.2646A>T
NR_148958.1:n.2394A>T
NR_148959.1:n.2320A>T
XM_005268976.3:c.2363A>T XP_005269033.1:p.Asn788Ile
XM_017019469.1:c.2174A>T XP_016874958.1:p.Asn725Ile
XM_024449020.1:c.2276A>T XP_024304788.1:p.Asn759Ile
XM_024449021.1:c.2153A>T XP_024304789.1:p.Asn718Ile
XM_024449022.1:c.2054A>T XP_024304790.1:p.Asn685Ile
NM_001166687.2:c.2054A>T NP_001160159.1:p.Asn685Ile
NM_001166688.2:c.2054A>T NP_001160160.1:p.Asn685Ile
NM_001354741.2:c.2078A>T NP_001341670.1:p.Asn693Ile
NM_001354742.2:c.2054A>T NP_001341671.1:p.Asn685Ile
NM_001354743.2:c.2054A>T NP_001341672.1:p.Asn685Ile
NM_001354744.2:c.2054A>T NP_001341673.1:p.Asn685Ile
NM_001354745.2:c.1967A>T NP_001341674.1:p.Asn656Ile
NM_001354746.2:c.1928A>T NP_001341675.1:p.Asn643Ile
NM_001354747.2:c.1904A>T NP_001341676.1:p.Asn635Ile
NM_001354748.2:c.1904A>T NP_001341677.1:p.Asn635Ile
NM_001363619.2:c.1961A>T NP_001350548.1:p.Asn654Ile
NR_148954.2:n.2357A>T
NR_148956.2:n.2283A>T
NR_148957.2:n.2512A>T
NR_148958.2:n.2260A>T
NR_148959.2:n.2186A>T