Canonical Allele Identifier: CA2034544953
Gene: PFKM HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000550257.7:c.2278T= ENSP00000447997.3:p.Trp760=
ENST00000340802.12:c.2269T= ENSP00000345771.6:p.Trp757=
ENST00000359794.11:c.2056T= MANE Select ENSP00000352842.5:p.Trp686=
ENST00000549941.7:c.1798T= ENSP00000446829.3:p.Trp600=
ENST00000550345.6:c.2056T= ENSP00000450369.2:p.Trp686=
ENST00000550924.6:c.2056T= ENSP00000446945.2:p.Trp686=
ENST00000551339.6:c.2056T= ENSP00000448253.2:p.Trp686=
ENST00000642730.1:c.2365T= ENSP00000496597.1:p.Trp789=
ENST00000312352.11:c.2056T= ENSP00000309438.7:p.Trp686=
ENST00000340802.10:c.2269T= ENSP00000345771.6:p.Trp757=
ENST00000359794.9:c.2056T= ENSP00000352842.5:p.Trp686=
ENST00000546964.5:n.2380T=
ENST00000547581.5:c.*2324T= ENSP00000447992.1:n.*2324T=
ENST00000547587.5:c.2056T= ENSP00000449426.1:p.Trp686=
ENST00000551804.5:c.1963T= ENSP00000448177.1:p.Trp655=
NM_000289.5:c.2056T= NP_000280.1:p.Trp686=
NM_001166686.1:c.2269T= NP_001160158.1:p.Trp757=
NM_001166687.1:c.2056T= NP_001160159.1:p.Trp686=
NM_001166688.1:c.2056T= NP_001160160.1:p.Trp686=
XM_005268974.1:c.2365T= XP_005269031.1:p.Trp789=
XM_005268975.1:c.2365T= XP_005269032.1:p.Trp789=
XM_005268976.2:c.2365T= XP_005269033.1:p.Trp789=
XM_005268977.1:c.2269T= XP_005269034.1:p.Trp757=
XM_005268978.2:c.2269T= XP_005269035.1:p.Trp757=
XM_005268979.1:c.2269T= XP_005269036.1:p.Trp757=
XM_011538487.1:c.2272T= XP_011536789.1:p.Trp758=
XM_011538488.1:c.2056T= XP_011536790.1:p.Trp686=
NM_000289.6:c.2056T= MANE Select NP_000280.1:p.Trp686=
NM_001166686.2:c.2269T= NP_001160158.1:p.Trp757=
NM_001354735.1:c.2365T= NP_001341664.1:p.Trp789=
NM_001354736.1:c.2365T= NP_001341665.1:p.Trp789=
NM_001354737.1:c.2269T= NP_001341666.1:p.Trp757=
NM_001354738.1:c.2269T= NP_001341667.1:p.Trp757=
NM_001354739.1:c.2269T= NP_001341668.1:p.Trp757=
NM_001354740.1:c.2200T= NP_001341669.1:p.Trp734=
NM_001354741.1:c.2080T= NP_001341670.1:p.Trp694=
NM_001354742.1:c.2056T= NP_001341671.1:p.Trp686=
NM_001354743.1:c.2056T= NP_001341672.1:p.Trp686=
NM_001354744.1:c.2056T= NP_001341673.1:p.Trp686=
NM_001354745.1:c.1969T= NP_001341674.1:p.Trp657=
NM_001354746.1:c.1930T= NP_001341675.1:p.Trp644=
NM_001354747.1:c.1906T= NP_001341676.1:p.Trp636=
NM_001354748.1:c.1906T= NP_001341677.1:p.Trp636=
NM_001363619.1:c.1963T= NP_001350548.1:p.Trp655=
NR_148954.1:n.2493T=
NR_148955.1:n.3129T=
NR_148956.1:n.2419T=
NR_148957.1:n.2648T=
NR_148958.1:n.2396T=
NR_148959.1:n.2322T=
XM_005268976.3:c.2365T= XP_005269033.1:p.Trp789=
XM_017019469.1:c.2176T= XP_016874958.1:p.Trp726=
XM_024449020.1:c.2278T= XP_024304788.1:p.Trp760=
XM_024449021.1:c.2155T= XP_024304789.1:p.Trp719=
XM_024449022.1:c.2056T= XP_024304790.1:p.Trp686=
NM_001166687.2:c.2056T= NP_001160159.1:p.Trp686=
NM_001166688.2:c.2056T= NP_001160160.1:p.Trp686=
NM_001354741.2:c.2080T= NP_001341670.1:p.Trp694=
NM_001354742.2:c.2056T= NP_001341671.1:p.Trp686=
NM_001354743.2:c.2056T= NP_001341672.1:p.Trp686=
NM_001354744.2:c.2056T= NP_001341673.1:p.Trp686=
NM_001354745.2:c.1969T= NP_001341674.1:p.Trp657=
NM_001354746.2:c.1930T= NP_001341675.1:p.Trp644=
NM_001354747.2:c.1906T= NP_001341676.1:p.Trp636=
NM_001354748.2:c.1906T= NP_001341677.1:p.Trp636=
NM_001363619.2:c.1963T= NP_001350548.1:p.Trp655=
NR_148954.2:n.2359T=
NR_148956.2:n.2285T=
NR_148957.2:n.2514T=
NR_148958.2:n.2262T=
NR_148959.2:n.2188T=