Canonical Allele Identifier: CA2618527592

Gene: PFKM

Linked Data

• gnomAD v4: 12-48141881-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48141881C>T , CM000674.2:g.48141881C>T	GRCh38
NC_000012.11:g.48535664C>T , CM000674.1:g.48535664C>T	GRCh37
NC_000012.10:g.46821931C>T	NCBI36
NG_016199.1:g.41009C>T
NG_016199.2:g.41629C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000550257.7:c.1723-33C>T	ENSP00000447997.3:n.1723-33C>T
ENST00000340802.12:c.1714-33C>T	ENSP00000345771.6:n.1714-33C>T
ENST00000359794.11:c.1501-33C>T MANE Select	ENSP00000352842.5:n.1501-33C>T
ENST00000549941.7:c.1408-33C>T	ENSP00000446829.3:n.1408-33C>T
ENST00000550345.6:c.1501-33C>T	ENSP00000450369.2:n.1501-33C>T
ENST00000550924.6:c.1501-33C>T	ENSP00000446945.2:n.1501-33C>T
ENST00000551339.6:c.1501-33C>T	ENSP00000448253.2:n.1501-33C>T
ENST00000642730.1:c.1810-33C>T	ENSP00000496597.1:n.1810-33C>T
ENST00000312352.11:c.1501-33C>T	ENSP00000309438.7:n.1501-33C>T
ENST00000340802.10:c.1714-33C>T	ENSP00000345771.6:n.1714-33C>T
ENST00000359794.9:c.1501-33C>T	ENSP00000352842.5:n.1501-33C>T
ENST00000546465.1:c.346-33C>T	ENSP00000446519.1:n.346-33C>T
ENST00000546964.5:n.1825-33C>T
ENST00000547581.5:c.*1769-33C>T	ENSP00000447992.1:n.*1769-33C>T
ENST00000547587.5:c.1501-33C>T	ENSP00000449426.1:n.1501-33C>T
ENST00000550802.1:n.186C>T
ENST00000551804.5:c.1408-33C>T	ENSP00000448177.1:n.1408-33C>T
ENST00000552214.1:n.157-33C>T
ENST00000552752.5:c.650-33C>T
ENST00000552818.1:n.124-33C>T
NM_000289.5:c.1501-33C>T	NP_000280.1:n.1501-33C>T
NM_001166686.1:c.1714-33C>T	NP_001160158.1:n.1714-33C>T
NM_001166687.1:c.1501-33C>T	NP_001160159.1:n.1501-33C>T
NM_001166688.1:c.1501-33C>T	NP_001160160.1:n.1501-33C>T
XM_005268974.1:c.1810-33C>T	XP_005269031.1:n.1810-33C>T
XM_005268975.1:c.1810-33C>T	XP_005269032.1:n.1810-33C>T
XM_005268976.2:c.1810-33C>T	XP_005269033.1:n.1810-33C>T
XM_005268977.1:c.1714-33C>T	XP_005269034.1:n.1714-33C>T
XM_005268978.2:c.1714-33C>T	XP_005269035.1:n.1714-33C>T
XM_005268979.1:c.1714-33C>T	XP_005269036.1:n.1714-33C>T
XM_011538487.1:c.1717-33C>T	XP_011536789.1:n.1717-33C>T
XM_011538488.1:c.1501-33C>T	XP_011536790.1:n.1501-33C>T
NM_000289.6:c.1501-33C>T MANE Select	NP_000280.1:n.1501-33C>T
NM_001166686.2:c.1714-33C>T	NP_001160158.1:n.1714-33C>T
NM_001354735.1:c.1810-33C>T	NP_001341664.1:n.1810-33C>T
NM_001354736.1:c.1810-33C>T	NP_001341665.1:n.1810-33C>T
NM_001354737.1:c.1714-33C>T	NP_001341666.1:n.1714-33C>T
NM_001354738.1:c.1714-33C>T	NP_001341667.1:n.1714-33C>T
NM_001354739.1:c.1714-33C>T	NP_001341668.1:n.1714-33C>T
NM_001354740.1:c.1645-33C>T	NP_001341669.1:n.1645-33C>T
NM_001354741.1:c.1525-33C>T	NP_001341670.1:n.1525-33C>T
NM_001354742.1:c.1501-33C>T	NP_001341671.1:n.1501-33C>T
NM_001354743.1:c.1501-33C>T	NP_001341672.1:n.1501-33C>T
NM_001354744.1:c.1501-33C>T	NP_001341673.1:n.1501-33C>T
NM_001354745.1:c.1414-33C>T	NP_001341674.1:n.1414-33C>T
NM_001354746.1:c.1375-33C>T	NP_001341675.1:n.1375-33C>T
NM_001354747.1:c.1351-33C>T	NP_001341676.1:n.1351-33C>T
NM_001354748.1:c.1351-33C>T	NP_001341677.1:n.1351-33C>T
NM_001363619.1:c.1408-33C>T	NP_001350548.1:n.1408-33C>T
NR_148954.1:n.1938-33C>T
NR_148955.1:n.2574-33C>T
NR_148956.1:n.1864-33C>T
NR_148957.1:n.2093-33C>T
NR_148958.1:n.1841-33C>T
NR_148959.1:n.1767-33C>T
XM_005268976.3:c.1810-33C>T	XP_005269033.1:n.1810-33C>T
XM_017019469.1:c.1621-33C>T	XP_016874958.1:n.1621-33C>T
XM_024449020.1:c.1723-33C>T	XP_024304788.1:n.1723-33C>T
XM_024449021.1:c.1600-33C>T	XP_024304789.1:n.1600-33C>T
XM_024449022.1:c.1501-33C>T	XP_024304790.1:n.1501-33C>T
NM_001166687.2:c.1501-33C>T	NP_001160159.1:n.1501-33C>T
NM_001166688.2:c.1501-33C>T	NP_001160160.1:n.1501-33C>T
NM_001354741.2:c.1525-33C>T	NP_001341670.1:n.1525-33C>T
NM_001354742.2:c.1501-33C>T	NP_001341671.1:n.1501-33C>T
NM_001354743.2:c.1501-33C>T	NP_001341672.1:n.1501-33C>T
NM_001354744.2:c.1501-33C>T	NP_001341673.1:n.1501-33C>T
NM_001354745.2:c.1414-33C>T	NP_001341674.1:n.1414-33C>T
NM_001354746.2:c.1375-33C>T	NP_001341675.1:n.1375-33C>T
NM_001354747.2:c.1351-33C>T	NP_001341676.1:n.1351-33C>T
NM_001354748.2:c.1351-33C>T	NP_001341677.1:n.1351-33C>T
NM_001363619.2:c.1408-33C>T	NP_001350548.1:n.1408-33C>T
NR_148954.2:n.1804-33C>T
NR_148956.2:n.1730-33C>T
NR_148957.2:n.1959-33C>T
NR_148958.2:n.1707-33C>T
NR_148959.2:n.1633-33C>T