Canonical Allele Identifier: CA384551722

Gene: PFKM

Linked Data

• ClinVar Variation Id: 2069452
• ClinVar RCV Id: RCV002962182
• gnomAD v4: 12-48141768-A-T
• MyVariant Identifiers: chr12:g.48535551A>T (hg19) ; chr12:g.48141768A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48141768A>T , CM000674.2:g.48141768A>T	GRCh38
NC_000012.11:g.48535551A>T , CM000674.1:g.48535551A>T	GRCh37
NC_000012.10:g.46821818A>T	NCBI36
NG_016199.1:g.40896A>T
NG_016199.2:g.41516A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000550257.7:c.1663A>T	ENSP00000447997.3:p.Ile555Phe
ENST00000340802.12:c.1654A>T	ENSP00000345771.6:p.Ile552Phe
ENST00000359794.11:c.1441A>T MANE Select	ENSP00000352842.5:p.Ile481Phe
ENST00000549941.7:c.1348A>T	ENSP00000446829.3:p.Ile450Phe
ENST00000550345.6:c.1441A>T	ENSP00000450369.2:p.Ile481Phe
ENST00000550924.6:c.1441A>T	ENSP00000446945.2:p.Ile481Phe
ENST00000551339.6:c.1441A>T	ENSP00000448253.2:p.Ile481Phe
ENST00000642730.1:c.1750A>T	ENSP00000496597.1:p.Ile584Phe
ENST00000312352.11:c.1441A>T	ENSP00000309438.7:p.Ile481Phe
ENST00000340802.10:c.1654A>T	ENSP00000345771.6:p.Ile552Phe
ENST00000359794.9:c.1441A>T	ENSP00000352842.5:p.Ile481Phe
ENST00000546465.1:c.286A>T	ENSP00000446519.1:p.Ile96Phe
ENST00000546964.5:n.1765A>T
ENST00000547581.5:c.*1709A>T	ENSP00000447992.1:n.*1709A>T
ENST00000547587.5:c.1441A>T	ENSP00000449426.1:p.Ile481Phe
ENST00000550802.1:n.73A>T
ENST00000551804.5:c.1348A>T	ENSP00000448177.1:p.Ile450Phe
ENST00000552214.1:n.97A>T
ENST00000552752.5:c.590A>T
ENST00000552818.1:n.64A>T
NM_000289.5:c.1441A>T	NP_000280.1:p.Ile481Phe
NM_001166686.1:c.1654A>T	NP_001160158.1:p.Ile552Phe
NM_001166687.1:c.1441A>T	NP_001160159.1:p.Ile481Phe
NM_001166688.1:c.1441A>T	NP_001160160.1:p.Ile481Phe
XM_005268974.1:c.1750A>T	XP_005269031.1:p.Ile584Phe
XM_005268975.1:c.1750A>T	XP_005269032.1:p.Ile584Phe
XM_005268976.2:c.1750A>T	XP_005269033.1:p.Ile584Phe
XM_005268977.1:c.1654A>T	XP_005269034.1:p.Ile552Phe
XM_005268978.2:c.1654A>T	XP_005269035.1:p.Ile552Phe
XM_005268979.1:c.1654A>T	XP_005269036.1:p.Ile552Phe
XM_011538487.1:c.1657A>T	XP_011536789.1:p.Ile553Phe
XM_011538488.1:c.1441A>T	XP_011536790.1:p.Ile481Phe
NM_000289.6:c.1441A>T MANE Select	NP_000280.1:p.Ile481Phe
NM_001166686.2:c.1654A>T	NP_001160158.1:p.Ile552Phe
NM_001354735.1:c.1750A>T	NP_001341664.1:p.Ile584Phe
NM_001354736.1:c.1750A>T	NP_001341665.1:p.Ile584Phe
NM_001354737.1:c.1654A>T	NP_001341666.1:p.Ile552Phe
NM_001354738.1:c.1654A>T	NP_001341667.1:p.Ile552Phe
NM_001354739.1:c.1654A>T	NP_001341668.1:p.Ile552Phe
NM_001354740.1:c.1585A>T	NP_001341669.1:p.Ile529Phe
NM_001354741.1:c.1465A>T	NP_001341670.1:p.Ile489Phe
NM_001354742.1:c.1441A>T	NP_001341671.1:p.Ile481Phe
NM_001354743.1:c.1441A>T	NP_001341672.1:p.Ile481Phe
NM_001354744.1:c.1441A>T	NP_001341673.1:p.Ile481Phe
NM_001354745.1:c.1354A>T	NP_001341674.1:p.Ile452Phe
NM_001354746.1:c.1315A>T	NP_001341675.1:p.Ile439Phe
NM_001354747.1:c.1291A>T	NP_001341676.1:p.Ile431Phe
NM_001354748.1:c.1291A>T	NP_001341677.1:p.Ile431Phe
NM_001363619.1:c.1348A>T	NP_001350548.1:p.Ile450Phe
NR_148954.1:n.1878A>T
NR_148955.1:n.2514A>T
NR_148956.1:n.1804A>T
NR_148957.1:n.2033A>T
NR_148958.1:n.1781A>T
NR_148959.1:n.1707A>T
XM_005268976.3:c.1750A>T	XP_005269033.1:p.Ile584Phe
XM_017019469.1:c.1561A>T	XP_016874958.1:p.Ile521Phe
XM_024449020.1:c.1663A>T	XP_024304788.1:p.Ile555Phe
XM_024449021.1:c.1540A>T	XP_024304789.1:p.Ile514Phe
XM_024449022.1:c.1441A>T	XP_024304790.1:p.Ile481Phe
NM_001166687.2:c.1441A>T	NP_001160159.1:p.Ile481Phe
NM_001166688.2:c.1441A>T	NP_001160160.1:p.Ile481Phe
NM_001354741.2:c.1465A>T	NP_001341670.1:p.Ile489Phe
NM_001354742.2:c.1441A>T	NP_001341671.1:p.Ile481Phe
NM_001354743.2:c.1441A>T	NP_001341672.1:p.Ile481Phe
NM_001354744.2:c.1441A>T	NP_001341673.1:p.Ile481Phe
NM_001354745.2:c.1354A>T	NP_001341674.1:p.Ile452Phe
NM_001354746.2:c.1315A>T	NP_001341675.1:p.Ile439Phe
NM_001354747.2:c.1291A>T	NP_001341676.1:p.Ile431Phe
NM_001354748.2:c.1291A>T	NP_001341677.1:p.Ile431Phe
NM_001363619.2:c.1348A>T	NP_001350548.1:p.Ile450Phe
NR_148954.2:n.1744A>T
NR_148956.2:n.1670A>T
NR_148957.2:n.1899A>T
NR_148958.2:n.1647A>T
NR_148959.2:n.1573A>T