Canonical Allele Identifier: CA384547572
Community Standard Title: NM_000289.6(PFKM):c.1057C>T (p.Gln353Ter)
Gene: PFKM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48137841C>T , CM000674.2:g.48137841C>T GRCh38
NC_000012.11:g.48531624C>T , CM000674.1:g.48531624C>T GRCh37
NC_000012.10:g.46817891C>T NCBI36
NG_016199.1:g.36969C>T
NG_016199.2:g.37589C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000289.6:c.1057C>T MANE Select NP_000280.1:p.Gln353Ter
ENST00000359794.11:c.1057C>T MANE Select ENSP00000352842.5:p.Gln353Ter
NM_000289.5:c.1057C>T NP_000280.1:p.Gln353Ter
NM_001166686.1:c.1270C>T NP_001160158.1:p.Gln424Ter
NM_001166686.2:c.1270C>T NP_001160158.1:p.Gln424Ter
NM_001166687.1:c.1057C>T NP_001160159.1:p.Gln353Ter
NM_001166687.2:c.1057C>T NP_001160159.1:p.Gln353Ter
NM_001166688.1:c.1057C>T NP_001160160.1:p.Gln353Ter
NM_001166688.2:c.1057C>T NP_001160160.1:p.Gln353Ter
NM_001354735.1:c.1366C>T NP_001341664.1:p.Gln456Ter
NM_001354736.1:c.1366C>T NP_001341665.1:p.Gln456Ter
NM_001354737.1:c.1270C>T NP_001341666.1:p.Gln424Ter
NM_001354738.1:c.1270C>T NP_001341667.1:p.Gln424Ter
NM_001354739.1:c.1270C>T NP_001341668.1:p.Gln424Ter
NM_001354740.1:c.1201C>T NP_001341669.1:p.Gln401Ter
NM_001354741.1:c.1081C>T NP_001341670.1:p.Gln361Ter
NM_001354741.2:c.1081C>T NP_001341670.1:p.Gln361Ter
NM_001354742.1:c.1057C>T NP_001341671.1:p.Gln353Ter
NM_001354742.2:c.1057C>T NP_001341671.1:p.Gln353Ter
NM_001354743.1:c.1057C>T NP_001341672.1:p.Gln353Ter
NM_001354743.2:c.1057C>T NP_001341672.1:p.Gln353Ter
NM_001354744.1:c.1057C>T NP_001341673.1:p.Gln353Ter
NM_001354744.2:c.1057C>T NP_001341673.1:p.Gln353Ter
NM_001354745.1:c.970C>T NP_001341674.1:p.Gln324Ter
NM_001354745.2:c.970C>T NP_001341674.1:p.Gln324Ter
NM_001354746.1:c.937-1444C>T NP_001341675.1:n.937-1444C>T
NM_001354746.2:c.937-1444C>T NP_001341675.1:n.937-1444C>T
NM_001354747.1:c.907C>T NP_001341676.1:p.Gln303Ter
NM_001354747.2:c.907C>T NP_001341676.1:p.Gln303Ter
NM_001354748.1:c.907C>T NP_001341677.1:p.Gln303Ter
NM_001354748.2:c.907C>T NP_001341677.1:p.Gln303Ter
NM_001363619.1:c.964C>T NP_001350548.1:p.Gln322Ter
NM_001363619.2:c.964C>T NP_001350548.1:p.Gln322Ter
NR_148954.1:n.1494C>T
NR_148954.2:n.1360C>T
NR_148955.1:n.2130C>T
NR_148956.1:n.1420C>T
NR_148956.2:n.1286C>T
NR_148957.1:n.1494C>T
NR_148957.2:n.1360C>T
NR_148958.1:n.1242C>T
NR_148958.2:n.1108C>T
NR_148959.1:n.1168C>T
NR_148959.2:n.1034C>T
ENST00000312352.11:c.1057C>T ENSP00000309438.7:p.Gln353Ter
ENST00000340802.10:c.1270C>T ENSP00000345771.6:p.Gln424Ter
ENST00000340802.12:c.1270C>T ENSP00000345771.6:p.Gln424Ter
ENST00000359794.9:c.1057C>T ENSP00000352842.5:p.Gln353Ter
ENST00000546465.1:c.86-2930C>T ENSP00000446519.1:n.86-2930C>T
ENST00000546964.5:n.1381C>T
ENST00000547148.5:n.485C>T
ENST00000547581.5:c.*1325C>T ENSP00000447992.1:n.*1325C>T
ENST00000547587.5:c.1057C>T ENSP00000449426.1:p.Gln353Ter
ENST00000549941.7:c.964C>T ENSP00000446829.3:p.Gln322Ter
ENST00000550257.7:c.1279C>T ENSP00000447997.3:p.Gln427Ter
ENST00000550345.6:c.1057C>T ENSP00000450369.2:p.Gln353Ter
ENST00000550924.6:c.1057C>T ENSP00000446945.2:p.Gln353Ter
ENST00000551339.6:c.1057C>T ENSP00000448253.2:p.Gln353Ter
ENST00000551804.5:c.964C>T ENSP00000448177.1:p.Gln322Ter
ENST00000552752.5:c.51C>T
ENST00000642730.1:c.1366C>T ENSP00000496597.1:p.Gln456Ter
XM_005268974.1:c.1366C>T XP_005269031.1:p.Gln456Ter
XM_005268975.1:c.1366C>T XP_005269032.1:p.Gln456Ter
XM_005268976.2:c.1366C>T XP_005269033.1:p.Gln456Ter
XM_005268976.3:c.1366C>T XP_005269033.1:p.Gln456Ter
XM_005268977.1:c.1270C>T XP_005269034.1:p.Gln424Ter
XM_005268978.2:c.1270C>T XP_005269035.1:p.Gln424Ter
XM_005268979.1:c.1270C>T XP_005269036.1:p.Gln424Ter
XM_011538487.1:c.1273C>T XP_011536789.1:p.Gln425Ter
XM_011538488.1:c.1057C>T XP_011536790.1:p.Gln353Ter
XM_017019469.1:c.1177C>T XP_016874958.1:p.Gln393Ter
XM_024449020.1:c.1279C>T XP_024304788.1:p.Gln427Ter
XM_024449021.1:c.1156C>T XP_024304789.1:p.Gln386Ter
XM_024449022.1:c.1057C>T XP_024304790.1:p.Gln353Ter