Canonical Allele Identifier: CA384555745

Gene: PFKM

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48145047C>G , CM000674.2:g.48145047C>G	GRCh38
NC_000012.11:g.48538830C>G , CM000674.1:g.48538830C>G	GRCh37
NC_000012.10:g.46825097C>G	NCBI36
NG_016199.1:g.44175C>G
NG_016199.2:g.44795C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550257.7:c.2231C>G	ENSP00000447997.3:p.Pro744Arg
ENST00000340802.12:c.2222C>G	ENSP00000345771.6:p.Pro741Arg
ENST00000359794.11:c.2009C>G MANE Select	ENSP00000352842.5:p.Pro670Arg
ENST00000549941.7:c.1751C>G	ENSP00000446829.3:p.Pro584Arg
ENST00000550345.6:c.2009C>G	ENSP00000450369.2:p.Pro670Arg
ENST00000550924.6:c.2009C>G	ENSP00000446945.2:p.Pro670Arg
ENST00000551339.6:c.2009C>G	ENSP00000448253.2:p.Pro670Arg
ENST00000642730.1:c.2318C>G	ENSP00000496597.1:p.Pro773Arg
ENST00000312352.11:c.2009C>G	ENSP00000309438.7:p.Pro670Arg
ENST00000340802.10:c.2222C>G	ENSP00000345771.6:p.Pro741Arg
ENST00000359794.9:c.2009C>G	ENSP00000352842.5:p.Pro670Arg
ENST00000546964.5:n.2333C>G
ENST00000547581.5:c.*2277C>G	ENSP00000447992.1:n.*2277C>G
ENST00000547587.5:c.2009C>G	ENSP00000449426.1:p.Pro670Arg
ENST00000551804.5:c.1916C>G	ENSP00000448177.1:p.Pro639Arg
ENST00000553055.1:c.285C>G
NM_000289.5:c.2009C>G	NP_000280.1:p.Pro670Arg
NM_001166686.1:c.2222C>G	NP_001160158.1:p.Pro741Arg
NM_001166687.1:c.2009C>G	NP_001160159.1:p.Pro670Arg
NM_001166688.1:c.2009C>G	NP_001160160.1:p.Pro670Arg
XM_005268974.1:c.2318C>G	XP_005269031.1:p.Pro773Arg
XM_005268975.1:c.2318C>G	XP_005269032.1:p.Pro773Arg
XM_005268976.2:c.2318C>G	XP_005269033.1:p.Pro773Arg
XM_005268977.1:c.2222C>G	XP_005269034.1:p.Pro741Arg
XM_005268978.2:c.2222C>G	XP_005269035.1:p.Pro741Arg
XM_005268979.1:c.2222C>G	XP_005269036.1:p.Pro741Arg
XM_011538487.1:c.2225C>G	XP_011536789.1:p.Pro742Arg
XM_011538488.1:c.2009C>G	XP_011536790.1:p.Pro670Arg
NM_000289.6:c.2009C>G MANE Select	NP_000280.1:p.Pro670Arg
NM_001166686.2:c.2222C>G	NP_001160158.1:p.Pro741Arg
NM_001354735.1:c.2318C>G	NP_001341664.1:p.Pro773Arg
NM_001354736.1:c.2318C>G	NP_001341665.1:p.Pro773Arg
NM_001354737.1:c.2222C>G	NP_001341666.1:p.Pro741Arg
NM_001354738.1:c.2222C>G	NP_001341667.1:p.Pro741Arg
NM_001354739.1:c.2222C>G	NP_001341668.1:p.Pro741Arg
NM_001354740.1:c.2153C>G	NP_001341669.1:p.Pro718Arg
NM_001354741.1:c.2033C>G	NP_001341670.1:p.Pro678Arg
NM_001354742.1:c.2009C>G	NP_001341671.1:p.Pro670Arg
NM_001354743.1:c.2009C>G	NP_001341672.1:p.Pro670Arg
NM_001354744.1:c.2009C>G	NP_001341673.1:p.Pro670Arg
NM_001354745.1:c.1922C>G	NP_001341674.1:p.Pro641Arg
NM_001354746.1:c.1883C>G	NP_001341675.1:p.Pro628Arg
NM_001354747.1:c.1859C>G	NP_001341676.1:p.Pro620Arg
NM_001354748.1:c.1859C>G	NP_001341677.1:p.Pro620Arg
NM_001363619.1:c.1916C>G	NP_001350548.1:p.Pro639Arg
NR_148954.1:n.2446C>G
NR_148955.1:n.3082C>G
NR_148956.1:n.2372C>G
NR_148957.1:n.2601C>G
NR_148958.1:n.2349C>G
NR_148959.1:n.2275C>G
XM_005268976.3:c.2318C>G	XP_005269033.1:p.Pro773Arg
XM_017019469.1:c.2129C>G	XP_016874958.1:p.Pro710Arg
XM_024449020.1:c.2231C>G	XP_024304788.1:p.Pro744Arg
XM_024449021.1:c.2108C>G	XP_024304789.1:p.Pro703Arg
XM_024449022.1:c.2009C>G	XP_024304790.1:p.Pro670Arg
NM_001166687.2:c.2009C>G	NP_001160159.1:p.Pro670Arg
NM_001166688.2:c.2009C>G	NP_001160160.1:p.Pro670Arg
NM_001354741.2:c.2033C>G	NP_001341670.1:p.Pro678Arg
NM_001354742.2:c.2009C>G	NP_001341671.1:p.Pro670Arg
NM_001354743.2:c.2009C>G	NP_001341672.1:p.Pro670Arg
NM_001354744.2:c.2009C>G	NP_001341673.1:p.Pro670Arg
NM_001354745.2:c.1922C>G	NP_001341674.1:p.Pro641Arg
NM_001354746.2:c.1883C>G	NP_001341675.1:p.Pro628Arg
NM_001354747.2:c.1859C>G	NP_001341676.1:p.Pro620Arg
NM_001354748.2:c.1859C>G	NP_001341677.1:p.Pro620Arg
NM_001363619.2:c.1916C>G	NP_001350548.1:p.Pro639Arg
NR_148954.2:n.2312C>G
NR_148956.2:n.2238C>G
NR_148957.2:n.2467C>G
NR_148958.2:n.2215C>G
NR_148959.2:n.2141C>G