Canonical Allele Identifier: CA384555742
Gene: PFKM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48145046C>G , CM000674.2:g.48145046C>G GRCh38
NC_000012.11:g.48538829C>G , CM000674.1:g.48538829C>G GRCh37
NC_000012.10:g.46825096C>G NCBI36
NG_016199.1:g.44174C>G
NG_016199.2:g.44794C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000550257.7:c.2230C>G ENSP00000447997.3:p.Pro744Ala
ENST00000340802.12:c.2221C>G ENSP00000345771.6:p.Pro741Ala
ENST00000359794.11:c.2008C>G MANE Select ENSP00000352842.5:p.Pro670Ala
ENST00000549941.7:c.1750C>G ENSP00000446829.3:p.Pro584Ala
ENST00000550345.6:c.2008C>G ENSP00000450369.2:p.Pro670Ala
ENST00000550924.6:c.2008C>G ENSP00000446945.2:p.Pro670Ala
ENST00000551339.6:c.2008C>G ENSP00000448253.2:p.Pro670Ala
ENST00000642730.1:c.2317C>G ENSP00000496597.1:p.Pro773Ala
ENST00000312352.11:c.2008C>G ENSP00000309438.7:p.Pro670Ala
ENST00000340802.10:c.2221C>G ENSP00000345771.6:p.Pro741Ala
ENST00000359794.9:c.2008C>G ENSP00000352842.5:p.Pro670Ala
ENST00000546964.5:n.2332C>G
ENST00000547581.5:c.*2276C>G ENSP00000447992.1:n.*2276C>G
ENST00000547587.5:c.2008C>G ENSP00000449426.1:p.Pro670Ala
ENST00000551804.5:c.1915C>G ENSP00000448177.1:p.Pro639Ala
ENST00000553055.1:c.284C>G
NM_000289.5:c.2008C>G NP_000280.1:p.Pro670Ala
NM_001166686.1:c.2221C>G NP_001160158.1:p.Pro741Ala
NM_001166687.1:c.2008C>G NP_001160159.1:p.Pro670Ala
NM_001166688.1:c.2008C>G NP_001160160.1:p.Pro670Ala
XM_005268974.1:c.2317C>G XP_005269031.1:p.Pro773Ala
XM_005268975.1:c.2317C>G XP_005269032.1:p.Pro773Ala
XM_005268976.2:c.2317C>G XP_005269033.1:p.Pro773Ala
XM_005268977.1:c.2221C>G XP_005269034.1:p.Pro741Ala
XM_005268978.2:c.2221C>G XP_005269035.1:p.Pro741Ala
XM_005268979.1:c.2221C>G XP_005269036.1:p.Pro741Ala
XM_011538487.1:c.2224C>G XP_011536789.1:p.Pro742Ala
XM_011538488.1:c.2008C>G XP_011536790.1:p.Pro670Ala
NM_000289.6:c.2008C>G MANE Select NP_000280.1:p.Pro670Ala
NM_001166686.2:c.2221C>G NP_001160158.1:p.Pro741Ala
NM_001354735.1:c.2317C>G NP_001341664.1:p.Pro773Ala
NM_001354736.1:c.2317C>G NP_001341665.1:p.Pro773Ala
NM_001354737.1:c.2221C>G NP_001341666.1:p.Pro741Ala
NM_001354738.1:c.2221C>G NP_001341667.1:p.Pro741Ala
NM_001354739.1:c.2221C>G NP_001341668.1:p.Pro741Ala
NM_001354740.1:c.2152C>G NP_001341669.1:p.Pro718Ala
NM_001354741.1:c.2032C>G NP_001341670.1:p.Pro678Ala
NM_001354742.1:c.2008C>G NP_001341671.1:p.Pro670Ala
NM_001354743.1:c.2008C>G NP_001341672.1:p.Pro670Ala
NM_001354744.1:c.2008C>G NP_001341673.1:p.Pro670Ala
NM_001354745.1:c.1921C>G NP_001341674.1:p.Pro641Ala
NM_001354746.1:c.1882C>G NP_001341675.1:p.Pro628Ala
NM_001354747.1:c.1858C>G NP_001341676.1:p.Pro620Ala
NM_001354748.1:c.1858C>G NP_001341677.1:p.Pro620Ala
NM_001363619.1:c.1915C>G NP_001350548.1:p.Pro639Ala
NR_148954.1:n.2445C>G
NR_148955.1:n.3081C>G
NR_148956.1:n.2371C>G
NR_148957.1:n.2600C>G
NR_148958.1:n.2348C>G
NR_148959.1:n.2274C>G
XM_005268976.3:c.2317C>G XP_005269033.1:p.Pro773Ala
XM_017019469.1:c.2128C>G XP_016874958.1:p.Pro710Ala
XM_024449020.1:c.2230C>G XP_024304788.1:p.Pro744Ala
XM_024449021.1:c.2107C>G XP_024304789.1:p.Pro703Ala
XM_024449022.1:c.2008C>G XP_024304790.1:p.Pro670Ala
NM_001166687.2:c.2008C>G NP_001160159.1:p.Pro670Ala
NM_001166688.2:c.2008C>G NP_001160160.1:p.Pro670Ala
NM_001354741.2:c.2032C>G NP_001341670.1:p.Pro678Ala
NM_001354742.2:c.2008C>G NP_001341671.1:p.Pro670Ala
NM_001354743.2:c.2008C>G NP_001341672.1:p.Pro670Ala
NM_001354744.2:c.2008C>G NP_001341673.1:p.Pro670Ala
NM_001354745.2:c.1921C>G NP_001341674.1:p.Pro641Ala
NM_001354746.2:c.1882C>G NP_001341675.1:p.Pro628Ala
NM_001354747.2:c.1858C>G NP_001341676.1:p.Pro620Ala
NM_001354748.2:c.1858C>G NP_001341677.1:p.Pro620Ala
NM_001363619.2:c.1915C>G NP_001350548.1:p.Pro639Ala
NR_148954.2:n.2311C>G
NR_148956.2:n.2237C>G
NR_148957.2:n.2466C>G
NR_148958.2:n.2214C>G
NR_148959.2:n.2140C>G