Canonical Allele Identifier: CA947351534

Gene: PFKM

Linked Data

• dbSNP Id: rs772804527
• gnomAD v3: 12-48141863-C-G
• gnomAD v4: 12-48141863-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48141863C>G , CM000674.2:g.48141863C>G	GRCh38
NC_000012.11:g.48535646C>G , CM000674.1:g.48535646C>G	GRCh37
NC_000012.10:g.46821913C>G	NCBI36
NG_016199.1:g.40991C>G
NG_016199.2:g.41611C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000550257.7:c.1722+36C>G	ENSP00000447997.3:n.1722+36C>G
ENST00000340802.12:c.1713+36C>G	ENSP00000345771.6:n.1713+36C>G
ENST00000359794.11:c.1500+36C>G MANE Select	ENSP00000352842.5:n.1500+36C>G
ENST00000549941.7:c.1407+36C>G	ENSP00000446829.3:n.1407+36C>G
ENST00000550345.6:c.1500+36C>G	ENSP00000450369.2:n.1500+36C>G
ENST00000550924.6:c.1500+36C>G	ENSP00000446945.2:n.1500+36C>G
ENST00000551339.6:c.1500+36C>G	ENSP00000448253.2:n.1500+36C>G
ENST00000642730.1:c.1809+36C>G	ENSP00000496597.1:n.1809+36C>G
ENST00000312352.11:c.1500+36C>G	ENSP00000309438.7:n.1500+36C>G
ENST00000340802.10:c.1713+36C>G	ENSP00000345771.6:n.1713+36C>G
ENST00000359794.9:c.1500+36C>G	ENSP00000352842.5:n.1500+36C>G
ENST00000546465.1:c.345+36C>G	ENSP00000446519.1:n.345+36C>G
ENST00000546964.5:n.1824+36C>G
ENST00000547581.5:c.*1768+36C>G	ENSP00000447992.1:n.*1768+36C>G
ENST00000547587.5:c.1500+36C>G	ENSP00000449426.1:n.1500+36C>G
ENST00000550802.1:n.168C>G
ENST00000551804.5:c.1407+36C>G	ENSP00000448177.1:n.1407+36C>G
ENST00000552214.1:n.156+36C>G
ENST00000552752.5:c.649+36C>G
ENST00000552818.1:n.123+36C>G
NM_000289.5:c.1500+36C>G	NP_000280.1:n.1500+36C>G
NM_001166686.1:c.1713+36C>G	NP_001160158.1:n.1713+36C>G
NM_001166687.1:c.1500+36C>G	NP_001160159.1:n.1500+36C>G
NM_001166688.1:c.1500+36C>G	NP_001160160.1:n.1500+36C>G
XM_005268974.1:c.1809+36C>G	XP_005269031.1:n.1809+36C>G
XM_005268975.1:c.1809+36C>G	XP_005269032.1:n.1809+36C>G
XM_005268976.2:c.1809+36C>G	XP_005269033.1:n.1809+36C>G
XM_005268977.1:c.1713+36C>G	XP_005269034.1:n.1713+36C>G
XM_005268978.2:c.1713+36C>G	XP_005269035.1:n.1713+36C>G
XM_005268979.1:c.1713+36C>G	XP_005269036.1:n.1713+36C>G
XM_011538487.1:c.1716+36C>G	XP_011536789.1:n.1716+36C>G
XM_011538488.1:c.1500+36C>G	XP_011536790.1:n.1500+36C>G
NM_000289.6:c.1500+36C>G MANE Select	NP_000280.1:n.1500+36C>G
NM_001166686.2:c.1713+36C>G	NP_001160158.1:n.1713+36C>G
NM_001354735.1:c.1809+36C>G	NP_001341664.1:n.1809+36C>G
NM_001354736.1:c.1809+36C>G	NP_001341665.1:n.1809+36C>G
NM_001354737.1:c.1713+36C>G	NP_001341666.1:n.1713+36C>G
NM_001354738.1:c.1713+36C>G	NP_001341667.1:n.1713+36C>G
NM_001354739.1:c.1713+36C>G	NP_001341668.1:n.1713+36C>G
NM_001354740.1:c.1644+36C>G	NP_001341669.1:n.1644+36C>G
NM_001354741.1:c.1524+36C>G	NP_001341670.1:n.1524+36C>G
NM_001354742.1:c.1500+36C>G	NP_001341671.1:n.1500+36C>G
NM_001354743.1:c.1500+36C>G	NP_001341672.1:n.1500+36C>G
NM_001354744.1:c.1500+36C>G	NP_001341673.1:n.1500+36C>G
NM_001354745.1:c.1413+36C>G	NP_001341674.1:n.1413+36C>G
NM_001354746.1:c.1374+36C>G	NP_001341675.1:n.1374+36C>G
NM_001354747.1:c.1350+36C>G	NP_001341676.1:n.1350+36C>G
NM_001354748.1:c.1350+36C>G	NP_001341677.1:n.1350+36C>G
NM_001363619.1:c.1407+36C>G	NP_001350548.1:n.1407+36C>G
NR_148954.1:n.1937+36C>G
NR_148955.1:n.2573+36C>G
NR_148956.1:n.1863+36C>G
NR_148957.1:n.2092+36C>G
NR_148958.1:n.1840+36C>G
NR_148959.1:n.1766+36C>G
XM_005268976.3:c.1809+36C>G	XP_005269033.1:n.1809+36C>G
XM_017019469.1:c.1620+36C>G	XP_016874958.1:n.1620+36C>G
XM_024449020.1:c.1722+36C>G	XP_024304788.1:n.1722+36C>G
XM_024449021.1:c.1599+36C>G	XP_024304789.1:n.1599+36C>G
XM_024449022.1:c.1500+36C>G	XP_024304790.1:n.1500+36C>G
NM_001166687.2:c.1500+36C>G	NP_001160159.1:n.1500+36C>G
NM_001166688.2:c.1500+36C>G	NP_001160160.1:n.1500+36C>G
NM_001354741.2:c.1524+36C>G	NP_001341670.1:n.1524+36C>G
NM_001354742.2:c.1500+36C>G	NP_001341671.1:n.1500+36C>G
NM_001354743.2:c.1500+36C>G	NP_001341672.1:n.1500+36C>G
NM_001354744.2:c.1500+36C>G	NP_001341673.1:n.1500+36C>G
NM_001354745.2:c.1413+36C>G	NP_001341674.1:n.1413+36C>G
NM_001354746.2:c.1374+36C>G	NP_001341675.1:n.1374+36C>G
NM_001354747.2:c.1350+36C>G	NP_001341676.1:n.1350+36C>G
NM_001354748.2:c.1350+36C>G	NP_001341677.1:n.1350+36C>G
NM_001363619.2:c.1407+36C>G	NP_001350548.1:n.1407+36C>G
NR_148954.2:n.1803+36C>G
NR_148956.2:n.1729+36C>G
NR_148957.2:n.1958+36C>G
NR_148958.2:n.1706+36C>G
NR_148959.2:n.1632+36C>G