Canonical Allele Identifier: CA114809
Gene: PFKM HGNC NCBI

Linked Data

ClinVar Variation Id: 1159
ClinVar RCV Id: RCV000001218
dbSNP Id: rs121918196

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48145096G>T , CM000674.2:g.48145096G>T GRCh38
NC_000012.11:g.48538879G>T , CM000674.1:g.48538879G>T GRCh37
NC_000012.10:g.46825146G>T NCBI36
NG_016199.1:g.44224G>T
NG_016199.2:g.44844G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000550257.7:c.2280G>T ENSP00000447997.3:p.Trp760Cys
ENST00000340802.12:c.2271G>T ENSP00000345771.6:p.Trp757Cys
ENST00000359794.11:c.2058G>T MANE Select ENSP00000352842.5:p.Trp686Cys
ENST00000549941.7:c.1800G>T ENSP00000446829.3:p.Trp600Cys
ENST00000550345.6:c.2058G>T ENSP00000450369.2:p.Trp686Cys
ENST00000550924.6:c.2058G>T ENSP00000446945.2:p.Trp686Cys
ENST00000551339.6:c.2058G>T ENSP00000448253.2:p.Trp686Cys
ENST00000642730.1:c.2367G>T ENSP00000496597.1:p.Trp789Cys
ENST00000312352.11:c.2058G>T ENSP00000309438.7:p.Trp686Cys
ENST00000340802.10:c.2271G>T ENSP00000345771.6:p.Trp757Cys
ENST00000359794.9:c.2058G>T ENSP00000352842.5:p.Trp686Cys
ENST00000546964.5:n.2382G>T
ENST00000547581.5:c.*2326G>T ENSP00000447992.1:n.*2326G>T
ENST00000547587.5:c.2058G>T ENSP00000449426.1:p.Trp686Cys
ENST00000551804.5:c.1965G>T ENSP00000448177.1:p.Trp655Cys
NM_000289.5:c.2058G>T NP_000280.1:p.Trp686Cys
NM_001166686.1:c.2271G>T NP_001160158.1:p.Trp757Cys
NM_001166687.1:c.2058G>T NP_001160159.1:p.Trp686Cys
NM_001166688.1:c.2058G>T NP_001160160.1:p.Trp686Cys
XM_005268974.1:c.2367G>T XP_005269031.1:p.Trp789Cys
XM_005268975.1:c.2367G>T XP_005269032.1:p.Trp789Cys
XM_005268976.2:c.2367G>T XP_005269033.1:p.Trp789Cys
XM_005268977.1:c.2271G>T XP_005269034.1:p.Trp757Cys
XM_005268978.2:c.2271G>T XP_005269035.1:p.Trp757Cys
XM_005268979.1:c.2271G>T XP_005269036.1:p.Trp757Cys
XM_011538487.1:c.2274G>T XP_011536789.1:p.Trp758Cys
XM_011538488.1:c.2058G>T XP_011536790.1:p.Trp686Cys
NM_000289.6:c.2058G>T MANE Select NP_000280.1:p.Trp686Cys
NM_001166686.2:c.2271G>T NP_001160158.1:p.Trp757Cys
NM_001354735.1:c.2367G>T NP_001341664.1:p.Trp789Cys
NM_001354736.1:c.2367G>T NP_001341665.1:p.Trp789Cys
NM_001354737.1:c.2271G>T NP_001341666.1:p.Trp757Cys
NM_001354738.1:c.2271G>T NP_001341667.1:p.Trp757Cys
NM_001354739.1:c.2271G>T NP_001341668.1:p.Trp757Cys
NM_001354740.1:c.2202G>T NP_001341669.1:p.Trp734Cys
NM_001354741.1:c.2082G>T NP_001341670.1:p.Trp694Cys
NM_001354742.1:c.2058G>T NP_001341671.1:p.Trp686Cys
NM_001354743.1:c.2058G>T NP_001341672.1:p.Trp686Cys
NM_001354744.1:c.2058G>T NP_001341673.1:p.Trp686Cys
NM_001354745.1:c.1971G>T NP_001341674.1:p.Trp657Cys
NM_001354746.1:c.1932G>T NP_001341675.1:p.Trp644Cys
NM_001354747.1:c.1908G>T NP_001341676.1:p.Trp636Cys
NM_001354748.1:c.1908G>T NP_001341677.1:p.Trp636Cys
NM_001363619.1:c.1965G>T NP_001350548.1:p.Trp655Cys
NR_148954.1:n.2495G>T
NR_148955.1:n.3131G>T
NR_148956.1:n.2421G>T
NR_148957.1:n.2650G>T
NR_148958.1:n.2398G>T
NR_148959.1:n.2324G>T
XM_005268976.3:c.2367G>T XP_005269033.1:p.Trp789Cys
XM_017019469.1:c.2178G>T XP_016874958.1:p.Trp726Cys
XM_024449020.1:c.2280G>T XP_024304788.1:p.Trp760Cys
XM_024449021.1:c.2157G>T XP_024304789.1:p.Trp719Cys
XM_024449022.1:c.2058G>T XP_024304790.1:p.Trp686Cys
NM_001166687.2:c.2058G>T NP_001160159.1:p.Trp686Cys
NM_001166688.2:c.2058G>T NP_001160160.1:p.Trp686Cys
NM_001354741.2:c.2082G>T NP_001341670.1:p.Trp694Cys
NM_001354742.2:c.2058G>T NP_001341671.1:p.Trp686Cys
NM_001354743.2:c.2058G>T NP_001341672.1:p.Trp686Cys
NM_001354744.2:c.2058G>T NP_001341673.1:p.Trp686Cys
NM_001354745.2:c.1971G>T NP_001341674.1:p.Trp657Cys
NM_001354746.2:c.1932G>T NP_001341675.1:p.Trp644Cys
NM_001354747.2:c.1908G>T NP_001341676.1:p.Trp636Cys
NM_001354748.2:c.1908G>T NP_001341677.1:p.Trp636Cys
NM_001363619.2:c.1965G>T NP_001350548.1:p.Trp655Cys
NR_148954.2:n.2361G>T
NR_148956.2:n.2287G>T
NR_148957.2:n.2516G>T
NR_148958.2:n.2264G>T
NR_148959.2:n.2190G>T