Canonical Allele Identifier: CA6537302
Community Standard Title: NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)
Gene: PFKM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48140824C>T , CM000674.2:g.48140824C>T GRCh38
NC_000012.11:g.48534607C>T , CM000674.1:g.48534607C>T GRCh37
NC_000012.10:g.46820874C>T NCBI36
NG_016199.1:g.39952C>T
NG_016199.2:g.40572C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000289.6:c.1294C>T MANE Select NP_000280.1:p.Arg432Ter
ENST00000359794.11:c.1294C>T MANE Select ENSP00000352842.5:p.Arg432Ter
NM_000289.5:c.1294C>T NP_000280.1:p.Arg432Ter
NM_001166686.1:c.1507C>T NP_001160158.1:p.Arg503Ter
NM_001166686.2:c.1507C>T NP_001160158.1:p.Arg503Ter
NM_001166687.1:c.1294C>T NP_001160159.1:p.Arg432Ter
NM_001166687.2:c.1294C>T NP_001160159.1:p.Arg432Ter
NM_001166688.1:c.1294C>T NP_001160160.1:p.Arg432Ter
NM_001166688.2:c.1294C>T NP_001160160.1:p.Arg432Ter
NM_001354735.1:c.1603C>T NP_001341664.1:p.Arg535Ter
NM_001354736.1:c.1603C>T NP_001341665.1:p.Arg535Ter
NM_001354737.1:c.1507C>T NP_001341666.1:p.Arg503Ter
NM_001354738.1:c.1507C>T NP_001341667.1:p.Arg503Ter
NM_001354739.1:c.1507C>T NP_001341668.1:p.Arg503Ter
NM_001354740.1:c.1438C>T NP_001341669.1:p.Arg480Ter
NM_001354741.1:c.1318C>T NP_001341670.1:p.Arg440Ter
NM_001354741.2:c.1318C>T NP_001341670.1:p.Arg440Ter
NM_001354742.1:c.1294C>T NP_001341671.1:p.Arg432Ter
NM_001354742.2:c.1294C>T NP_001341671.1:p.Arg432Ter
NM_001354743.1:c.1294C>T NP_001341672.1:p.Arg432Ter
NM_001354743.2:c.1294C>T NP_001341672.1:p.Arg432Ter
NM_001354744.1:c.1294C>T NP_001341673.1:p.Arg432Ter
NM_001354744.2:c.1294C>T NP_001341673.1:p.Arg432Ter
NM_001354745.1:c.1207C>T NP_001341674.1:p.Arg403Ter
NM_001354745.2:c.1207C>T NP_001341674.1:p.Arg403Ter
NM_001354746.1:c.1168C>T NP_001341675.1:p.Arg390Ter
NM_001354746.2:c.1168C>T NP_001341675.1:p.Arg390Ter
NM_001354747.1:c.1144C>T NP_001341676.1:p.Arg382Ter
NM_001354747.2:c.1144C>T NP_001341676.1:p.Arg382Ter
NM_001354748.1:c.1144C>T NP_001341677.1:p.Arg382Ter
NM_001354748.2:c.1144C>T NP_001341677.1:p.Arg382Ter
NM_001363619.1:c.1201C>T NP_001350548.1:p.Arg401Ter
NM_001363619.2:c.1201C>T NP_001350548.1:p.Arg401Ter
NR_148954.1:n.1731C>T
NR_148954.2:n.1597C>T
NR_148955.1:n.2367C>T
NR_148956.1:n.1657C>T
NR_148956.2:n.1523C>T
NR_148957.1:n.1886C>T
NR_148957.2:n.1752C>T
NR_148958.1:n.1634C>T
NR_148958.2:n.1500C>T
NR_148959.1:n.1560C>T
NR_148959.2:n.1426C>T
ENST00000312352.11:c.1294C>T ENSP00000309438.7:p.Arg432Ter
ENST00000340802.10:c.1507C>T ENSP00000345771.6:p.Arg503Ter
ENST00000340802.12:c.1507C>T ENSP00000345771.6:p.Arg503Ter
ENST00000359794.9:c.1294C>T ENSP00000352842.5:p.Arg432Ter
ENST00000546465.1:c.139C>T ENSP00000446519.1:p.Arg47Ter
ENST00000546964.5:n.1618C>T
ENST00000547148.5:n.722C>T
ENST00000547581.5:c.*1562C>T ENSP00000447992.1:n.*1562C>T
ENST00000547587.5:c.1294C>T ENSP00000449426.1:p.Arg432Ter
ENST00000549941.7:c.1201C>T ENSP00000446829.3:p.Arg401Ter
ENST00000550257.7:c.1516C>T ENSP00000447997.3:p.Arg506Ter
ENST00000550345.6:c.1294C>T ENSP00000450369.2:p.Arg432Ter
ENST00000550924.6:c.1294C>T ENSP00000446945.2:p.Arg432Ter
ENST00000551339.6:c.1294C>T ENSP00000448253.2:p.Arg432Ter
ENST00000551804.5:c.1201C>T ENSP00000448177.1:p.Arg401Ter
ENST00000552752.5:c.443C>T
ENST00000642730.1:c.1603C>T ENSP00000496597.1:p.Arg535Ter
XM_005268974.1:c.1603C>T XP_005269031.1:p.Arg535Ter
XM_005268975.1:c.1603C>T XP_005269032.1:p.Arg535Ter
XM_005268976.2:c.1603C>T XP_005269033.1:p.Arg535Ter
XM_005268976.3:c.1603C>T XP_005269033.1:p.Arg535Ter
XM_005268977.1:c.1507C>T XP_005269034.1:p.Arg503Ter
XM_005268978.2:c.1507C>T XP_005269035.1:p.Arg503Ter
XM_005268979.1:c.1507C>T XP_005269036.1:p.Arg503Ter
XM_011538487.1:c.1510C>T XP_011536789.1:p.Arg504Ter
XM_011538488.1:c.1294C>T XP_011536790.1:p.Arg432Ter
XM_017019469.1:c.1414C>T XP_016874958.1:p.Arg472Ter
XM_024449020.1:c.1516C>T XP_024304788.1:p.Arg506Ter
XM_024449021.1:c.1393C>T XP_024304789.1:p.Arg465Ter
XM_024449022.1:c.1294C>T XP_024304790.1:p.Arg432Ter