Canonical Allele Identifier: CA479459908
Gene: PFKM HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.48538912T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48145129T>C , CM000674.2:g.48145129T>C GRCh38
NC_000012.11:g.48538912T>C , CM000674.1:g.48538912T>C GRCh37
NC_000012.10:g.46825179T>C NCBI36
NG_016199.1:g.44257T>C
NG_016199.2:g.44877T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000550257.7:c.2313T>C ENSP00000447997.3:p.Asn771=
ENST00000340802.12:c.2304T>C ENSP00000345771.6:p.Asn768=
ENST00000359794.11:c.2091T>C MANE Select ENSP00000352842.5:p.Asn697=
ENST00000549941.7:c.1833T>C ENSP00000446829.3:p.Asn611=
ENST00000550345.6:c.2091T>C ENSP00000450369.2:p.Asn697=
ENST00000550924.6:c.2091T>C ENSP00000446945.2:p.Asn697=
ENST00000551339.6:c.2091T>C ENSP00000448253.2:p.Asn697=
ENST00000642730.1:c.2400T>C ENSP00000496597.1:p.Asn800=
ENST00000312352.11:c.2091T>C ENSP00000309438.7:p.Asn697=
ENST00000340802.10:c.2304T>C ENSP00000345771.6:p.Asn768=
ENST00000359794.9:c.2091T>C ENSP00000352842.5:p.Asn697=
ENST00000546964.5:n.2415T>C
ENST00000547581.5:c.*2359T>C ENSP00000447992.1:n.*2359T>C
ENST00000547587.5:c.2091T>C ENSP00000449426.1:p.Asn697=
ENST00000551804.5:c.1998T>C ENSP00000448177.1:p.Asn666=
NM_000289.5:c.2091T>C NP_000280.1:p.Asn697=
NM_001166686.1:c.2304T>C NP_001160158.1:p.Asn768=
NM_001166687.1:c.2091T>C NP_001160159.1:p.Asn697=
NM_001166688.1:c.2091T>C NP_001160160.1:p.Asn697=
XM_005268974.1:c.2400T>C XP_005269031.1:p.Asn800=
XM_005268975.1:c.2400T>C XP_005269032.1:p.Asn800=
XM_005268976.2:c.2400T>C XP_005269033.1:p.Asn800=
XM_005268977.1:c.2304T>C XP_005269034.1:p.Asn768=
XM_005268978.2:c.2304T>C XP_005269035.1:p.Asn768=
XM_005268979.1:c.2304T>C XP_005269036.1:p.Asn768=
XM_011538487.1:c.2307T>C XP_011536789.1:p.Asn769=
XM_011538488.1:c.2091T>C XP_011536790.1:p.Asn697=
NM_000289.6:c.2091T>C MANE Select NP_000280.1:p.Asn697=
NM_001166686.2:c.2304T>C NP_001160158.1:p.Asn768=
NM_001354735.1:c.2400T>C NP_001341664.1:p.Asn800=
NM_001354736.1:c.2400T>C NP_001341665.1:p.Asn800=
NM_001354737.1:c.2304T>C NP_001341666.1:p.Asn768=
NM_001354738.1:c.2304T>C NP_001341667.1:p.Asn768=
NM_001354739.1:c.2304T>C NP_001341668.1:p.Asn768=
NM_001354740.1:c.2235T>C NP_001341669.1:p.Asn745=
NM_001354741.1:c.2115T>C NP_001341670.1:p.Asn705=
NM_001354742.1:c.2091T>C NP_001341671.1:p.Asn697=
NM_001354743.1:c.2091T>C NP_001341672.1:p.Asn697=
NM_001354744.1:c.2091T>C NP_001341673.1:p.Asn697=
NM_001354745.1:c.2004T>C NP_001341674.1:p.Asn668=
NM_001354746.1:c.1965T>C NP_001341675.1:p.Asn655=
NM_001354747.1:c.1941T>C NP_001341676.1:p.Asn647=
NM_001354748.1:c.1941T>C NP_001341677.1:p.Asn647=
NM_001363619.1:c.1998T>C NP_001350548.1:p.Asn666=
NR_148954.1:n.2528T>C
NR_148955.1:n.3164T>C
NR_148956.1:n.2454T>C
NR_148957.1:n.2683T>C
NR_148958.1:n.2431T>C
NR_148959.1:n.2357T>C
XM_005268976.3:c.2400T>C XP_005269033.1:p.Asn800=
XM_017019469.1:c.2211T>C XP_016874958.1:p.Asn737=
XM_024449020.1:c.2313T>C XP_024304788.1:p.Asn771=
XM_024449021.1:c.2190T>C XP_024304789.1:p.Asn730=
XM_024449022.1:c.2091T>C XP_024304790.1:p.Asn697=
NM_001166687.2:c.2091T>C NP_001160159.1:p.Asn697=
NM_001166688.2:c.2091T>C NP_001160160.1:p.Asn697=
NM_001354741.2:c.2115T>C NP_001341670.1:p.Asn705=
NM_001354742.2:c.2091T>C NP_001341671.1:p.Asn697=
NM_001354743.2:c.2091T>C NP_001341672.1:p.Asn697=
NM_001354744.2:c.2091T>C NP_001341673.1:p.Asn697=
NM_001354745.2:c.2004T>C NP_001341674.1:p.Asn668=
NM_001354746.2:c.1965T>C NP_001341675.1:p.Asn655=
NM_001354747.2:c.1941T>C NP_001341676.1:p.Asn647=
NM_001354748.2:c.1941T>C NP_001341677.1:p.Asn647=
NM_001363619.2:c.1998T>C NP_001350548.1:p.Asn666=
NR_148954.2:n.2394T>C
NR_148956.2:n.2320T>C
NR_148957.2:n.2549T>C
NR_148958.2:n.2297T>C
NR_148959.2:n.2223T>C