Canonical Allele Identifier: CA384554557
Community Standard Title: NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
Gene: PFKM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48142935C>T , CM000674.2:g.48142935C>T GRCh38
NC_000012.11:g.48536718C>T , CM000674.1:g.48536718C>T GRCh37
NC_000012.10:g.46822985C>T NCBI36
NG_016199.1:g.42063C>T
NG_016199.2:g.42683C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000289.6:c.1807C>T MANE Select NP_000280.1:p.Arg603Ter
ENST00000359794.11:c.1807C>T MANE Select ENSP00000352842.5:p.Arg603Ter
NM_000289.5:c.1807C>T NP_000280.1:p.Arg603Ter
NM_001166686.1:c.2020C>T NP_001160158.1:p.Arg674Ter
NM_001166686.2:c.2020C>T NP_001160158.1:p.Arg674Ter
NM_001166687.1:c.1807C>T NP_001160159.1:p.Arg603Ter
NM_001166687.2:c.1807C>T NP_001160159.1:p.Arg603Ter
NM_001166688.1:c.1807C>T NP_001160160.1:p.Arg603Ter
NM_001166688.2:c.1807C>T NP_001160160.1:p.Arg603Ter
NM_001354735.1:c.2116C>T NP_001341664.1:p.Arg706Ter
NM_001354736.1:c.2116C>T NP_001341665.1:p.Arg706Ter
NM_001354737.1:c.2020C>T NP_001341666.1:p.Arg674Ter
NM_001354738.1:c.2020C>T NP_001341667.1:p.Arg674Ter
NM_001354739.1:c.2020C>T NP_001341668.1:p.Arg674Ter
NM_001354740.1:c.1951C>T NP_001341669.1:p.Arg651Ter
NM_001354741.1:c.1831C>T NP_001341670.1:p.Arg611Ter
NM_001354741.2:c.1831C>T NP_001341670.1:p.Arg611Ter
NM_001354742.1:c.1807C>T NP_001341671.1:p.Arg603Ter
NM_001354742.2:c.1807C>T NP_001341671.1:p.Arg603Ter
NM_001354743.1:c.1807C>T NP_001341672.1:p.Arg603Ter
NM_001354743.2:c.1807C>T NP_001341672.1:p.Arg603Ter
NM_001354744.1:c.1807C>T NP_001341673.1:p.Arg603Ter
NM_001354744.2:c.1807C>T NP_001341673.1:p.Arg603Ter
NM_001354745.1:c.1720C>T NP_001341674.1:p.Arg574Ter
NM_001354745.2:c.1720C>T NP_001341674.1:p.Arg574Ter
NM_001354746.1:c.1681C>T NP_001341675.1:p.Arg561Ter
NM_001354746.2:c.1681C>T NP_001341675.1:p.Arg561Ter
NM_001354747.1:c.1657C>T NP_001341676.1:p.Arg553Ter
NM_001354747.2:c.1657C>T NP_001341676.1:p.Arg553Ter
NM_001354748.1:c.1657C>T NP_001341677.1:p.Arg553Ter
NM_001354748.2:c.1657C>T NP_001341677.1:p.Arg553Ter
NM_001363619.1:c.1714C>T NP_001350548.1:p.Arg572Ter
NM_001363619.2:c.1714C>T NP_001350548.1:p.Arg572Ter
NR_148954.1:n.2244C>T
NR_148954.2:n.2110C>T
NR_148955.1:n.2880C>T
NR_148956.1:n.2170C>T
NR_148956.2:n.2036C>T
NR_148957.1:n.2399C>T
NR_148957.2:n.2265C>T
NR_148958.1:n.2147C>T
NR_148958.2:n.2013C>T
NR_148959.1:n.2073C>T
NR_148959.2:n.1939C>T
ENST00000312352.11:c.1807C>T ENSP00000309438.7:p.Arg603Ter
ENST00000340802.10:c.2020C>T ENSP00000345771.6:p.Arg674Ter
ENST00000340802.12:c.2020C>T ENSP00000345771.6:p.Arg674Ter
ENST00000359794.9:c.1807C>T ENSP00000352842.5:p.Arg603Ter
ENST00000546964.5:n.2131C>T
ENST00000547581.5:c.*2075C>T ENSP00000447992.1:n.*2075C>T
ENST00000547587.5:c.1807C>T ENSP00000449426.1:p.Arg603Ter
ENST00000549941.7:c.1561-818C>T ENSP00000446829.3:n.1561-818C>T
ENST00000550257.7:c.2029C>T ENSP00000447997.3:p.Arg677Ter
ENST00000550345.6:c.1807C>T ENSP00000450369.2:p.Arg603Ter
ENST00000550802.1:n.525C>T
ENST00000550924.6:c.1807C>T ENSP00000446945.2:p.Arg603Ter
ENST00000551339.6:c.1807C>T ENSP00000448253.2:p.Arg603Ter
ENST00000551804.5:c.1714C>T ENSP00000448177.1:p.Arg572Ter
ENST00000553055.1:c.95-818C>T
ENST00000642730.1:c.2116C>T ENSP00000496597.1:p.Arg706Ter
XM_005268974.1:c.2116C>T XP_005269031.1:p.Arg706Ter
XM_005268975.1:c.2116C>T XP_005269032.1:p.Arg706Ter
XM_005268976.2:c.2116C>T XP_005269033.1:p.Arg706Ter
XM_005268976.3:c.2116C>T XP_005269033.1:p.Arg706Ter
XM_005268977.1:c.2020C>T XP_005269034.1:p.Arg674Ter
XM_005268978.2:c.2020C>T XP_005269035.1:p.Arg674Ter
XM_005268979.1:c.2020C>T XP_005269036.1:p.Arg674Ter
XM_011538487.1:c.2023C>T XP_011536789.1:p.Arg675Ter
XM_011538488.1:c.1807C>T XP_011536790.1:p.Arg603Ter
XM_017019469.1:c.1927C>T XP_016874958.1:p.Arg643Ter
XM_024449020.1:c.2029C>T XP_024304788.1:p.Arg677Ter
XM_024449021.1:c.1906C>T XP_024304789.1:p.Arg636Ter
XM_024449022.1:c.1807C>T XP_024304790.1:p.Arg603Ter