Canonical Allele Identifier: CA384551831

Gene: PFKM

Linked Data

• MyVariant Identifiers: chr12:g.48535564T>A (hg19) ; chr12:g.48141781T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48141781T>A , CM000674.2:g.48141781T>A	GRCh38
NC_000012.11:g.48535564T>A , CM000674.1:g.48535564T>A	GRCh37
NC_000012.10:g.46821831T>A	NCBI36
NG_016199.1:g.40909T>A
NG_016199.2:g.41529T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000550257.7:c.1676T>A	ENSP00000447997.3:p.Ile559Lys
ENST00000340802.12:c.1667T>A	ENSP00000345771.6:p.Ile556Lys
ENST00000359794.11:c.1454T>A MANE Select	ENSP00000352842.5:p.Ile485Lys
ENST00000549941.7:c.1361T>A	ENSP00000446829.3:p.Ile454Lys
ENST00000550345.6:c.1454T>A	ENSP00000450369.2:p.Ile485Lys
ENST00000550924.6:c.1454T>A	ENSP00000446945.2:p.Ile485Lys
ENST00000551339.6:c.1454T>A	ENSP00000448253.2:p.Ile485Lys
ENST00000642730.1:c.1763T>A	ENSP00000496597.1:p.Ile588Lys
ENST00000312352.11:c.1454T>A	ENSP00000309438.7:p.Ile485Lys
ENST00000340802.10:c.1667T>A	ENSP00000345771.6:p.Ile556Lys
ENST00000359794.9:c.1454T>A	ENSP00000352842.5:p.Ile485Lys
ENST00000546465.1:c.299T>A	ENSP00000446519.1:p.Ile100Lys
ENST00000546964.5:n.1778T>A
ENST00000547581.5:c.*1722T>A	ENSP00000447992.1:n.*1722T>A
ENST00000547587.5:c.1454T>A	ENSP00000449426.1:p.Ile485Lys
ENST00000550802.1:n.86T>A
ENST00000551804.5:c.1361T>A	ENSP00000448177.1:p.Ile454Lys
ENST00000552214.1:n.110T>A
ENST00000552752.5:c.603T>A
ENST00000552818.1:n.77T>A
NM_000289.5:c.1454T>A	NP_000280.1:p.Ile485Lys
NM_001166686.1:c.1667T>A	NP_001160158.1:p.Ile556Lys
NM_001166687.1:c.1454T>A	NP_001160159.1:p.Ile485Lys
NM_001166688.1:c.1454T>A	NP_001160160.1:p.Ile485Lys
XM_005268974.1:c.1763T>A	XP_005269031.1:p.Ile588Lys
XM_005268975.1:c.1763T>A	XP_005269032.1:p.Ile588Lys
XM_005268976.2:c.1763T>A	XP_005269033.1:p.Ile588Lys
XM_005268977.1:c.1667T>A	XP_005269034.1:p.Ile556Lys
XM_005268978.2:c.1667T>A	XP_005269035.1:p.Ile556Lys
XM_005268979.1:c.1667T>A	XP_005269036.1:p.Ile556Lys
XM_011538487.1:c.1670T>A	XP_011536789.1:p.Ile557Lys
XM_011538488.1:c.1454T>A	XP_011536790.1:p.Ile485Lys
NM_000289.6:c.1454T>A MANE Select	NP_000280.1:p.Ile485Lys
NM_001166686.2:c.1667T>A	NP_001160158.1:p.Ile556Lys
NM_001354735.1:c.1763T>A	NP_001341664.1:p.Ile588Lys
NM_001354736.1:c.1763T>A	NP_001341665.1:p.Ile588Lys
NM_001354737.1:c.1667T>A	NP_001341666.1:p.Ile556Lys
NM_001354738.1:c.1667T>A	NP_001341667.1:p.Ile556Lys
NM_001354739.1:c.1667T>A	NP_001341668.1:p.Ile556Lys
NM_001354740.1:c.1598T>A	NP_001341669.1:p.Ile533Lys
NM_001354741.1:c.1478T>A	NP_001341670.1:p.Ile493Lys
NM_001354742.1:c.1454T>A	NP_001341671.1:p.Ile485Lys
NM_001354743.1:c.1454T>A	NP_001341672.1:p.Ile485Lys
NM_001354744.1:c.1454T>A	NP_001341673.1:p.Ile485Lys
NM_001354745.1:c.1367T>A	NP_001341674.1:p.Ile456Lys
NM_001354746.1:c.1328T>A	NP_001341675.1:p.Ile443Lys
NM_001354747.1:c.1304T>A	NP_001341676.1:p.Ile435Lys
NM_001354748.1:c.1304T>A	NP_001341677.1:p.Ile435Lys
NM_001363619.1:c.1361T>A	NP_001350548.1:p.Ile454Lys
NR_148954.1:n.1891T>A
NR_148955.1:n.2527T>A
NR_148956.1:n.1817T>A
NR_148957.1:n.2046T>A
NR_148958.1:n.1794T>A
NR_148959.1:n.1720T>A
XM_005268976.3:c.1763T>A	XP_005269033.1:p.Ile588Lys
XM_017019469.1:c.1574T>A	XP_016874958.1:p.Ile525Lys
XM_024449020.1:c.1676T>A	XP_024304788.1:p.Ile559Lys
XM_024449021.1:c.1553T>A	XP_024304789.1:p.Ile518Lys
XM_024449022.1:c.1454T>A	XP_024304790.1:p.Ile485Lys
NM_001166687.2:c.1454T>A	NP_001160159.1:p.Ile485Lys
NM_001166688.2:c.1454T>A	NP_001160160.1:p.Ile485Lys
NM_001354741.2:c.1478T>A	NP_001341670.1:p.Ile493Lys
NM_001354742.2:c.1454T>A	NP_001341671.1:p.Ile485Lys
NM_001354743.2:c.1454T>A	NP_001341672.1:p.Ile485Lys
NM_001354744.2:c.1454T>A	NP_001341673.1:p.Ile485Lys
NM_001354745.2:c.1367T>A	NP_001341674.1:p.Ile456Lys
NM_001354746.2:c.1328T>A	NP_001341675.1:p.Ile443Lys
NM_001354747.2:c.1304T>A	NP_001341676.1:p.Ile435Lys
NM_001354748.2:c.1304T>A	NP_001341677.1:p.Ile435Lys
NM_001363619.2:c.1361T>A	NP_001350548.1:p.Ile454Lys
NR_148954.2:n.1757T>A
NR_148956.2:n.1683T>A
NR_148957.2:n.1912T>A
NR_148958.2:n.1660T>A
NR_148959.2:n.1586T>A