Canonical Allele Identifier: CA6537521
Gene: PFKM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48145094T>C , CM000674.2:g.48145094T>C GRCh38
NC_000012.11:g.48538877T>C , CM000674.1:g.48538877T>C GRCh37
NC_000012.10:g.46825144T>C NCBI36
NG_016199.1:g.44222T>C
NG_016199.2:g.44842T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000550257.7:c.2278T>C ENSP00000447997.3:p.Trp760Arg
ENST00000340802.12:c.2269T>C ENSP00000345771.6:p.Trp757Arg
ENST00000359794.11:c.2056T>C MANE Select ENSP00000352842.5:p.Trp686Arg
ENST00000549941.7:c.1798T>C ENSP00000446829.3:p.Trp600Arg
ENST00000550345.6:c.2056T>C ENSP00000450369.2:p.Trp686Arg
ENST00000550924.6:c.2056T>C ENSP00000446945.2:p.Trp686Arg
ENST00000551339.6:c.2056T>C ENSP00000448253.2:p.Trp686Arg
ENST00000642730.1:c.2365T>C ENSP00000496597.1:p.Trp789Arg
ENST00000312352.11:c.2056T>C ENSP00000309438.7:p.Trp686Arg
ENST00000340802.10:c.2269T>C ENSP00000345771.6:p.Trp757Arg
ENST00000359794.9:c.2056T>C ENSP00000352842.5:p.Trp686Arg
ENST00000546964.5:n.2380T>C
ENST00000547581.5:c.*2324T>C ENSP00000447992.1:n.*2324T>C
ENST00000547587.5:c.2056T>C ENSP00000449426.1:p.Trp686Arg
ENST00000551804.5:c.1963T>C ENSP00000448177.1:p.Trp655Arg
NM_000289.5:c.2056T>C NP_000280.1:p.Trp686Arg
NM_001166686.1:c.2269T>C NP_001160158.1:p.Trp757Arg
NM_001166687.1:c.2056T>C NP_001160159.1:p.Trp686Arg
NM_001166688.1:c.2056T>C NP_001160160.1:p.Trp686Arg
XM_005268974.1:c.2365T>C XP_005269031.1:p.Trp789Arg
XM_005268975.1:c.2365T>C XP_005269032.1:p.Trp789Arg
XM_005268976.2:c.2365T>C XP_005269033.1:p.Trp789Arg
XM_005268977.1:c.2269T>C XP_005269034.1:p.Trp757Arg
XM_005268978.2:c.2269T>C XP_005269035.1:p.Trp757Arg
XM_005268979.1:c.2269T>C XP_005269036.1:p.Trp757Arg
XM_011538487.1:c.2272T>C XP_011536789.1:p.Trp758Arg
XM_011538488.1:c.2056T>C XP_011536790.1:p.Trp686Arg
NM_000289.6:c.2056T>C MANE Select NP_000280.1:p.Trp686Arg
NM_001166686.2:c.2269T>C NP_001160158.1:p.Trp757Arg
NM_001354735.1:c.2365T>C NP_001341664.1:p.Trp789Arg
NM_001354736.1:c.2365T>C NP_001341665.1:p.Trp789Arg
NM_001354737.1:c.2269T>C NP_001341666.1:p.Trp757Arg
NM_001354738.1:c.2269T>C NP_001341667.1:p.Trp757Arg
NM_001354739.1:c.2269T>C NP_001341668.1:p.Trp757Arg
NM_001354740.1:c.2200T>C NP_001341669.1:p.Trp734Arg
NM_001354741.1:c.2080T>C NP_001341670.1:p.Trp694Arg
NM_001354742.1:c.2056T>C NP_001341671.1:p.Trp686Arg
NM_001354743.1:c.2056T>C NP_001341672.1:p.Trp686Arg
NM_001354744.1:c.2056T>C NP_001341673.1:p.Trp686Arg
NM_001354745.1:c.1969T>C NP_001341674.1:p.Trp657Arg
NM_001354746.1:c.1930T>C NP_001341675.1:p.Trp644Arg
NM_001354747.1:c.1906T>C NP_001341676.1:p.Trp636Arg
NM_001354748.1:c.1906T>C NP_001341677.1:p.Trp636Arg
NM_001363619.1:c.1963T>C NP_001350548.1:p.Trp655Arg
NR_148954.1:n.2493T>C
NR_148955.1:n.3129T>C
NR_148956.1:n.2419T>C
NR_148957.1:n.2648T>C
NR_148958.1:n.2396T>C
NR_148959.1:n.2322T>C
XM_005268976.3:c.2365T>C XP_005269033.1:p.Trp789Arg
XM_017019469.1:c.2176T>C XP_016874958.1:p.Trp726Arg
XM_024449020.1:c.2278T>C XP_024304788.1:p.Trp760Arg
XM_024449021.1:c.2155T>C XP_024304789.1:p.Trp719Arg
XM_024449022.1:c.2056T>C XP_024304790.1:p.Trp686Arg
NM_001166687.2:c.2056T>C NP_001160159.1:p.Trp686Arg
NM_001166688.2:c.2056T>C NP_001160160.1:p.Trp686Arg
NM_001354741.2:c.2080T>C NP_001341670.1:p.Trp694Arg
NM_001354742.2:c.2056T>C NP_001341671.1:p.Trp686Arg
NM_001354743.2:c.2056T>C NP_001341672.1:p.Trp686Arg
NM_001354744.2:c.2056T>C NP_001341673.1:p.Trp686Arg
NM_001354745.2:c.1969T>C NP_001341674.1:p.Trp657Arg
NM_001354746.2:c.1930T>C NP_001341675.1:p.Trp644Arg
NM_001354747.2:c.1906T>C NP_001341676.1:p.Trp636Arg
NM_001354748.2:c.1906T>C NP_001341677.1:p.Trp636Arg
NM_001363619.2:c.1963T>C NP_001350548.1:p.Trp655Arg
NR_148954.2:n.2359T>C
NR_148956.2:n.2285T>C
NR_148957.2:n.2514T>C
NR_148958.2:n.2262T>C
NR_148959.2:n.2188T>C