Canonical Allele Identifier: CA384555854
Gene: PFKM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48145095G>C , CM000674.2:g.48145095G>C GRCh38
NC_000012.11:g.48538878G>C , CM000674.1:g.48538878G>C GRCh37
NC_000012.10:g.46825145G>C NCBI36
NG_016199.1:g.44223G>C
NG_016199.2:g.44843G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000550257.7:c.2279G>C ENSP00000447997.3:p.Trp760Ser
ENST00000340802.12:c.2270G>C ENSP00000345771.6:p.Trp757Ser
ENST00000359794.11:c.2057G>C MANE Select ENSP00000352842.5:p.Trp686Ser
ENST00000549941.7:c.1799G>C ENSP00000446829.3:p.Trp600Ser
ENST00000550345.6:c.2057G>C ENSP00000450369.2:p.Trp686Ser
ENST00000550924.6:c.2057G>C ENSP00000446945.2:p.Trp686Ser
ENST00000551339.6:c.2057G>C ENSP00000448253.2:p.Trp686Ser
ENST00000642730.1:c.2366G>C ENSP00000496597.1:p.Trp789Ser
ENST00000312352.11:c.2057G>C ENSP00000309438.7:p.Trp686Ser
ENST00000340802.10:c.2270G>C ENSP00000345771.6:p.Trp757Ser
ENST00000359794.9:c.2057G>C ENSP00000352842.5:p.Trp686Ser
ENST00000546964.5:n.2381G>C
ENST00000547581.5:c.*2325G>C ENSP00000447992.1:n.*2325G>C
ENST00000547587.5:c.2057G>C ENSP00000449426.1:p.Trp686Ser
ENST00000551804.5:c.1964G>C ENSP00000448177.1:p.Trp655Ser
NM_000289.5:c.2057G>C NP_000280.1:p.Trp686Ser
NM_001166686.1:c.2270G>C NP_001160158.1:p.Trp757Ser
NM_001166687.1:c.2057G>C NP_001160159.1:p.Trp686Ser
NM_001166688.1:c.2057G>C NP_001160160.1:p.Trp686Ser
XM_005268974.1:c.2366G>C XP_005269031.1:p.Trp789Ser
XM_005268975.1:c.2366G>C XP_005269032.1:p.Trp789Ser
XM_005268976.2:c.2366G>C XP_005269033.1:p.Trp789Ser
XM_005268977.1:c.2270G>C XP_005269034.1:p.Trp757Ser
XM_005268978.2:c.2270G>C XP_005269035.1:p.Trp757Ser
XM_005268979.1:c.2270G>C XP_005269036.1:p.Trp757Ser
XM_011538487.1:c.2273G>C XP_011536789.1:p.Trp758Ser
XM_011538488.1:c.2057G>C XP_011536790.1:p.Trp686Ser
NM_000289.6:c.2057G>C MANE Select NP_000280.1:p.Trp686Ser
NM_001166686.2:c.2270G>C NP_001160158.1:p.Trp757Ser
NM_001354735.1:c.2366G>C NP_001341664.1:p.Trp789Ser
NM_001354736.1:c.2366G>C NP_001341665.1:p.Trp789Ser
NM_001354737.1:c.2270G>C NP_001341666.1:p.Trp757Ser
NM_001354738.1:c.2270G>C NP_001341667.1:p.Trp757Ser
NM_001354739.1:c.2270G>C NP_001341668.1:p.Trp757Ser
NM_001354740.1:c.2201G>C NP_001341669.1:p.Trp734Ser
NM_001354741.1:c.2081G>C NP_001341670.1:p.Trp694Ser
NM_001354742.1:c.2057G>C NP_001341671.1:p.Trp686Ser
NM_001354743.1:c.2057G>C NP_001341672.1:p.Trp686Ser
NM_001354744.1:c.2057G>C NP_001341673.1:p.Trp686Ser
NM_001354745.1:c.1970G>C NP_001341674.1:p.Trp657Ser
NM_001354746.1:c.1931G>C NP_001341675.1:p.Trp644Ser
NM_001354747.1:c.1907G>C NP_001341676.1:p.Trp636Ser
NM_001354748.1:c.1907G>C NP_001341677.1:p.Trp636Ser
NM_001363619.1:c.1964G>C NP_001350548.1:p.Trp655Ser
NR_148954.1:n.2494G>C
NR_148955.1:n.3130G>C
NR_148956.1:n.2420G>C
NR_148957.1:n.2649G>C
NR_148958.1:n.2397G>C
NR_148959.1:n.2323G>C
XM_005268976.3:c.2366G>C XP_005269033.1:p.Trp789Ser
XM_017019469.1:c.2177G>C XP_016874958.1:p.Trp726Ser
XM_024449020.1:c.2279G>C XP_024304788.1:p.Trp760Ser
XM_024449021.1:c.2156G>C XP_024304789.1:p.Trp719Ser
XM_024449022.1:c.2057G>C XP_024304790.1:p.Trp686Ser
NM_001166687.2:c.2057G>C NP_001160159.1:p.Trp686Ser
NM_001166688.2:c.2057G>C NP_001160160.1:p.Trp686Ser
NM_001354741.2:c.2081G>C NP_001341670.1:p.Trp694Ser
NM_001354742.2:c.2057G>C NP_001341671.1:p.Trp686Ser
NM_001354743.2:c.2057G>C NP_001341672.1:p.Trp686Ser
NM_001354744.2:c.2057G>C NP_001341673.1:p.Trp686Ser
NM_001354745.2:c.1970G>C NP_001341674.1:p.Trp657Ser
NM_001354746.2:c.1931G>C NP_001341675.1:p.Trp644Ser
NM_001354747.2:c.1907G>C NP_001341676.1:p.Trp636Ser
NM_001354748.2:c.1907G>C NP_001341677.1:p.Trp636Ser
NM_001363619.2:c.1964G>C NP_001350548.1:p.Trp655Ser
NR_148954.2:n.2360G>C
NR_148956.2:n.2286G>C
NR_148957.2:n.2515G>C
NR_148958.2:n.2263G>C
NR_148959.2:n.2189G>C