Canonical Allele Identifier: CA384555930
Gene: PFKM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48145128A>C , CM000674.2:g.48145128A>C GRCh38
NC_000012.11:g.48538911A>C , CM000674.1:g.48538911A>C GRCh37
NC_000012.10:g.46825178A>C NCBI36
NG_016199.1:g.44256A>C
NG_016199.2:g.44876A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000550257.7:c.2312A>C ENSP00000447997.3:p.Asn771Thr
ENST00000340802.12:c.2303A>C ENSP00000345771.6:p.Asn768Thr
ENST00000359794.11:c.2090A>C MANE Select ENSP00000352842.5:p.Asn697Thr
ENST00000549941.7:c.1832A>C ENSP00000446829.3:p.Asn611Thr
ENST00000550345.6:c.2090A>C ENSP00000450369.2:p.Asn697Thr
ENST00000550924.6:c.2090A>C ENSP00000446945.2:p.Asn697Thr
ENST00000551339.6:c.2090A>C ENSP00000448253.2:p.Asn697Thr
ENST00000642730.1:c.2399A>C ENSP00000496597.1:p.Asn800Thr
ENST00000312352.11:c.2090A>C ENSP00000309438.7:p.Asn697Thr
ENST00000340802.10:c.2303A>C ENSP00000345771.6:p.Asn768Thr
ENST00000359794.9:c.2090A>C ENSP00000352842.5:p.Asn697Thr
ENST00000546964.5:n.2414A>C
ENST00000547581.5:c.*2358A>C ENSP00000447992.1:n.*2358A>C
ENST00000547587.5:c.2090A>C ENSP00000449426.1:p.Asn697Thr
ENST00000551804.5:c.1997A>C ENSP00000448177.1:p.Asn666Thr
NM_000289.5:c.2090A>C NP_000280.1:p.Asn697Thr
NM_001166686.1:c.2303A>C NP_001160158.1:p.Asn768Thr
NM_001166687.1:c.2090A>C NP_001160159.1:p.Asn697Thr
NM_001166688.1:c.2090A>C NP_001160160.1:p.Asn697Thr
XM_005268974.1:c.2399A>C XP_005269031.1:p.Asn800Thr
XM_005268975.1:c.2399A>C XP_005269032.1:p.Asn800Thr
XM_005268976.2:c.2399A>C XP_005269033.1:p.Asn800Thr
XM_005268977.1:c.2303A>C XP_005269034.1:p.Asn768Thr
XM_005268978.2:c.2303A>C XP_005269035.1:p.Asn768Thr
XM_005268979.1:c.2303A>C XP_005269036.1:p.Asn768Thr
XM_011538487.1:c.2306A>C XP_011536789.1:p.Asn769Thr
XM_011538488.1:c.2090A>C XP_011536790.1:p.Asn697Thr
NM_000289.6:c.2090A>C MANE Select NP_000280.1:p.Asn697Thr
NM_001166686.2:c.2303A>C NP_001160158.1:p.Asn768Thr
NM_001354735.1:c.2399A>C NP_001341664.1:p.Asn800Thr
NM_001354736.1:c.2399A>C NP_001341665.1:p.Asn800Thr
NM_001354737.1:c.2303A>C NP_001341666.1:p.Asn768Thr
NM_001354738.1:c.2303A>C NP_001341667.1:p.Asn768Thr
NM_001354739.1:c.2303A>C NP_001341668.1:p.Asn768Thr
NM_001354740.1:c.2234A>C NP_001341669.1:p.Asn745Thr
NM_001354741.1:c.2114A>C NP_001341670.1:p.Asn705Thr
NM_001354742.1:c.2090A>C NP_001341671.1:p.Asn697Thr
NM_001354743.1:c.2090A>C NP_001341672.1:p.Asn697Thr
NM_001354744.1:c.2090A>C NP_001341673.1:p.Asn697Thr
NM_001354745.1:c.2003A>C NP_001341674.1:p.Asn668Thr
NM_001354746.1:c.1964A>C NP_001341675.1:p.Asn655Thr
NM_001354747.1:c.1940A>C NP_001341676.1:p.Asn647Thr
NM_001354748.1:c.1940A>C NP_001341677.1:p.Asn647Thr
NM_001363619.1:c.1997A>C NP_001350548.1:p.Asn666Thr
NR_148954.1:n.2527A>C
NR_148955.1:n.3163A>C
NR_148956.1:n.2453A>C
NR_148957.1:n.2682A>C
NR_148958.1:n.2430A>C
NR_148959.1:n.2356A>C
XM_005268976.3:c.2399A>C XP_005269033.1:p.Asn800Thr
XM_017019469.1:c.2210A>C XP_016874958.1:p.Asn737Thr
XM_024449020.1:c.2312A>C XP_024304788.1:p.Asn771Thr
XM_024449021.1:c.2189A>C XP_024304789.1:p.Asn730Thr
XM_024449022.1:c.2090A>C XP_024304790.1:p.Asn697Thr
NM_001166687.2:c.2090A>C NP_001160159.1:p.Asn697Thr
NM_001166688.2:c.2090A>C NP_001160160.1:p.Asn697Thr
NM_001354741.2:c.2114A>C NP_001341670.1:p.Asn705Thr
NM_001354742.2:c.2090A>C NP_001341671.1:p.Asn697Thr
NM_001354743.2:c.2090A>C NP_001341672.1:p.Asn697Thr
NM_001354744.2:c.2090A>C NP_001341673.1:p.Asn697Thr
NM_001354745.2:c.2003A>C NP_001341674.1:p.Asn668Thr
NM_001354746.2:c.1964A>C NP_001341675.1:p.Asn655Thr
NM_001354747.2:c.1940A>C NP_001341676.1:p.Asn647Thr
NM_001354748.2:c.1940A>C NP_001341677.1:p.Asn647Thr
NM_001363619.2:c.1997A>C NP_001350548.1:p.Asn666Thr
NR_148954.2:n.2393A>C
NR_148956.2:n.2319A>C
NR_148957.2:n.2548A>C
NR_148958.2:n.2296A>C
NR_148959.2:n.2222A>C