Canonical Allele Identifier: CA384555771
Community Standard Title: NM_000289.6(PFKM):c.2020A>T (p.Asn674Tyr)
Gene: PFKM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48145058A>T , CM000674.2:g.48145058A>T GRCh38
NC_000012.11:g.48538841A>T , CM000674.1:g.48538841A>T GRCh37
NC_000012.10:g.46825108A>T NCBI36
NG_016199.1:g.44186A>T
NG_016199.2:g.44806A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000289.6:c.2020A>T MANE Select NP_000280.1:p.Asn674Tyr
ENST00000359794.11:c.2020A>T MANE Select ENSP00000352842.5:p.Asn674Tyr
NM_000289.5:c.2020A>T NP_000280.1:p.Asn674Tyr
NM_001166686.1:c.2233A>T NP_001160158.1:p.Asn745Tyr
NM_001166686.2:c.2233A>T NP_001160158.1:p.Asn745Tyr
NM_001166687.1:c.2020A>T NP_001160159.1:p.Asn674Tyr
NM_001166687.2:c.2020A>T NP_001160159.1:p.Asn674Tyr
NM_001166688.1:c.2020A>T NP_001160160.1:p.Asn674Tyr
NM_001166688.2:c.2020A>T NP_001160160.1:p.Asn674Tyr
NM_001354735.1:c.2329A>T NP_001341664.1:p.Asn777Tyr
NM_001354736.1:c.2329A>T NP_001341665.1:p.Asn777Tyr
NM_001354737.1:c.2233A>T NP_001341666.1:p.Asn745Tyr
NM_001354738.1:c.2233A>T NP_001341667.1:p.Asn745Tyr
NM_001354739.1:c.2233A>T NP_001341668.1:p.Asn745Tyr
NM_001354740.1:c.2164A>T NP_001341669.1:p.Asn722Tyr
NM_001354741.1:c.2044A>T NP_001341670.1:p.Asn682Tyr
NM_001354741.2:c.2044A>T NP_001341670.1:p.Asn682Tyr
NM_001354742.1:c.2020A>T NP_001341671.1:p.Asn674Tyr
NM_001354742.2:c.2020A>T NP_001341671.1:p.Asn674Tyr
NM_001354743.1:c.2020A>T NP_001341672.1:p.Asn674Tyr
NM_001354743.2:c.2020A>T NP_001341672.1:p.Asn674Tyr
NM_001354744.1:c.2020A>T NP_001341673.1:p.Asn674Tyr
NM_001354744.2:c.2020A>T NP_001341673.1:p.Asn674Tyr
NM_001354745.1:c.1933A>T NP_001341674.1:p.Asn645Tyr
NM_001354745.2:c.1933A>T NP_001341674.1:p.Asn645Tyr
NM_001354746.1:c.1894A>T NP_001341675.1:p.Asn632Tyr
NM_001354746.2:c.1894A>T NP_001341675.1:p.Asn632Tyr
NM_001354747.1:c.1870A>T NP_001341676.1:p.Asn624Tyr
NM_001354747.2:c.1870A>T NP_001341676.1:p.Asn624Tyr
NM_001354748.1:c.1870A>T NP_001341677.1:p.Asn624Tyr
NM_001354748.2:c.1870A>T NP_001341677.1:p.Asn624Tyr
NM_001363619.1:c.1927A>T NP_001350548.1:p.Asn643Tyr
NM_001363619.2:c.1927A>T NP_001350548.1:p.Asn643Tyr
NR_148954.1:n.2457A>T
NR_148954.2:n.2323A>T
NR_148955.1:n.3093A>T
NR_148956.1:n.2383A>T
NR_148956.2:n.2249A>T
NR_148957.1:n.2612A>T
NR_148957.2:n.2478A>T
NR_148958.1:n.2360A>T
NR_148958.2:n.2226A>T
NR_148959.1:n.2286A>T
NR_148959.2:n.2152A>T
ENST00000312352.11:c.2020A>T ENSP00000309438.7:p.Asn674Tyr
ENST00000340802.10:c.2233A>T ENSP00000345771.6:p.Asn745Tyr
ENST00000340802.12:c.2233A>T ENSP00000345771.6:p.Asn745Tyr
ENST00000359794.9:c.2020A>T ENSP00000352842.5:p.Asn674Tyr
ENST00000546964.5:n.2344A>T
ENST00000547581.5:c.*2288A>T ENSP00000447992.1:n.*2288A>T
ENST00000547587.5:c.2020A>T ENSP00000449426.1:p.Asn674Tyr
ENST00000549941.7:c.1762A>T ENSP00000446829.3:p.Asn588Tyr
ENST00000550257.7:c.2242A>T ENSP00000447997.3:p.Asn748Tyr
ENST00000550345.6:c.2020A>T ENSP00000450369.2:p.Asn674Tyr
ENST00000550924.6:c.2020A>T ENSP00000446945.2:p.Asn674Tyr
ENST00000551339.6:c.2020A>T ENSP00000448253.2:p.Asn674Tyr
ENST00000551804.5:c.1927A>T ENSP00000448177.1:p.Asn643Tyr
ENST00000642730.1:c.2329A>T ENSP00000496597.1:p.Asn777Tyr
XM_005268974.1:c.2329A>T XP_005269031.1:p.Asn777Tyr
XM_005268975.1:c.2329A>T XP_005269032.1:p.Asn777Tyr
XM_005268976.2:c.2329A>T XP_005269033.1:p.Asn777Tyr
XM_005268976.3:c.2329A>T XP_005269033.1:p.Asn777Tyr
XM_005268977.1:c.2233A>T XP_005269034.1:p.Asn745Tyr
XM_005268978.2:c.2233A>T XP_005269035.1:p.Asn745Tyr
XM_005268979.1:c.2233A>T XP_005269036.1:p.Asn745Tyr
XM_011538487.1:c.2236A>T XP_011536789.1:p.Asn746Tyr
XM_011538488.1:c.2020A>T XP_011536790.1:p.Asn674Tyr
XM_017019469.1:c.2140A>T XP_016874958.1:p.Asn714Tyr
XM_024449020.1:c.2242A>T XP_024304788.1:p.Asn748Tyr
XM_024449021.1:c.2119A>T XP_024304789.1:p.Asn707Tyr
XM_024449022.1:c.2020A>T XP_024304790.1:p.Asn674Tyr