Canonical Allele Identifier: CA384547453

Gene: PFKM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48137827T>C , CM000674.2:g.48137827T>C	GRCh38
NC_000012.11:g.48531610T>C , CM000674.1:g.48531610T>C	GRCh37
NC_000012.10:g.46817877T>C	NCBI36
NG_016199.1:g.36955T>C
NG_016199.2:g.37575T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550257.7:c.1265T>C	ENSP00000447997.3:p.Leu422Pro
ENST00000340802.12:c.1256T>C	ENSP00000345771.6:p.Leu419Pro
ENST00000359794.11:c.1043T>C MANE Select	ENSP00000352842.5:p.Leu348Pro
ENST00000549941.7:c.950T>C	ENSP00000446829.3:p.Leu317Pro
ENST00000550345.6:c.1043T>C	ENSP00000450369.2:p.Leu348Pro
ENST00000550924.6:c.1043T>C	ENSP00000446945.2:p.Leu348Pro
ENST00000551339.6:c.1043T>C	ENSP00000448253.2:p.Leu348Pro
ENST00000642730.1:c.1352T>C	ENSP00000496597.1:p.Leu451Pro
ENST00000312352.11:c.1043T>C	ENSP00000309438.7:p.Leu348Pro
ENST00000340802.10:c.1256T>C	ENSP00000345771.6:p.Leu419Pro
ENST00000359794.9:c.1043T>C	ENSP00000352842.5:p.Leu348Pro
ENST00000546465.1:c.86-2944T>C	ENSP00000446519.1:n.86-2944T>C
ENST00000546964.5:n.1367T>C
ENST00000547148.5:n.471T>C
ENST00000547581.5:c.*1311T>C	ENSP00000447992.1:n.*1311T>C
ENST00000547587.5:c.1043T>C	ENSP00000449426.1:p.Leu348Pro
ENST00000551804.5:c.950T>C	ENSP00000448177.1:p.Leu317Pro
ENST00000552752.5:c.37T>C
NM_000289.5:c.1043T>C	NP_000280.1:p.Leu348Pro
NM_001166686.1:c.1256T>C	NP_001160158.1:p.Leu419Pro
NM_001166687.1:c.1043T>C	NP_001160159.1:p.Leu348Pro
NM_001166688.1:c.1043T>C	NP_001160160.1:p.Leu348Pro
XM_005268974.1:c.1352T>C	XP_005269031.1:p.Leu451Pro
XM_005268975.1:c.1352T>C	XP_005269032.1:p.Leu451Pro
XM_005268976.2:c.1352T>C	XP_005269033.1:p.Leu451Pro
XM_005268977.1:c.1256T>C	XP_005269034.1:p.Leu419Pro
XM_005268978.2:c.1256T>C	XP_005269035.1:p.Leu419Pro
XM_005268979.1:c.1256T>C	XP_005269036.1:p.Leu419Pro
XM_011538487.1:c.1259T>C	XP_011536789.1:p.Leu420Pro
XM_011538488.1:c.1043T>C	XP_011536790.1:p.Leu348Pro
NM_000289.6:c.1043T>C MANE Select	NP_000280.1:p.Leu348Pro
NM_001166686.2:c.1256T>C	NP_001160158.1:p.Leu419Pro
NM_001354735.1:c.1352T>C	NP_001341664.1:p.Leu451Pro
NM_001354736.1:c.1352T>C	NP_001341665.1:p.Leu451Pro
NM_001354737.1:c.1256T>C	NP_001341666.1:p.Leu419Pro
NM_001354738.1:c.1256T>C	NP_001341667.1:p.Leu419Pro
NM_001354739.1:c.1256T>C	NP_001341668.1:p.Leu419Pro
NM_001354740.1:c.1187T>C	NP_001341669.1:p.Leu396Pro
NM_001354741.1:c.1067T>C	NP_001341670.1:p.Leu356Pro
NM_001354742.1:c.1043T>C	NP_001341671.1:p.Leu348Pro
NM_001354743.1:c.1043T>C	NP_001341672.1:p.Leu348Pro
NM_001354744.1:c.1043T>C	NP_001341673.1:p.Leu348Pro
NM_001354745.1:c.956T>C	NP_001341674.1:p.Leu319Pro
NM_001354746.1:c.937-1458T>C	NP_001341675.1:n.937-1458T>C
NM_001354747.1:c.893T>C	NP_001341676.1:p.Leu298Pro
NM_001354748.1:c.893T>C	NP_001341677.1:p.Leu298Pro
NM_001363619.1:c.950T>C	NP_001350548.1:p.Leu317Pro
NR_148954.1:n.1480T>C
NR_148955.1:n.2116T>C
NR_148956.1:n.1406T>C
NR_148957.1:n.1480T>C
NR_148958.1:n.1228T>C
NR_148959.1:n.1154T>C
XM_005268976.3:c.1352T>C	XP_005269033.1:p.Leu451Pro
XM_017019469.1:c.1163T>C	XP_016874958.1:p.Leu388Pro
XM_024449020.1:c.1265T>C	XP_024304788.1:p.Leu422Pro
XM_024449021.1:c.1142T>C	XP_024304789.1:p.Leu381Pro
XM_024449022.1:c.1043T>C	XP_024304790.1:p.Leu348Pro
NM_001166687.2:c.1043T>C	NP_001160159.1:p.Leu348Pro
NM_001166688.2:c.1043T>C	NP_001160160.1:p.Leu348Pro
NM_001354741.2:c.1067T>C	NP_001341670.1:p.Leu356Pro
NM_001354742.2:c.1043T>C	NP_001341671.1:p.Leu348Pro
NM_001354743.2:c.1043T>C	NP_001341672.1:p.Leu348Pro
NM_001354744.2:c.1043T>C	NP_001341673.1:p.Leu348Pro
NM_001354745.2:c.956T>C	NP_001341674.1:p.Leu319Pro
NM_001354746.2:c.937-1458T>C	NP_001341675.1:n.937-1458T>C
NM_001354747.2:c.893T>C	NP_001341676.1:p.Leu298Pro
NM_001354748.2:c.893T>C	NP_001341677.1:p.Leu298Pro
NM_001363619.2:c.950T>C	NP_001350548.1:p.Leu317Pro
NR_148954.2:n.1346T>C
NR_148956.2:n.1272T>C
NR_148957.2:n.1346T>C
NR_148958.2:n.1094T>C
NR_148959.2:n.1020T>C