Canonical Allele Identifier: CA6537373
Gene: PFKM HGNC NCBI

Linked Data

ClinVar Variation Id: 255751
dbSNP Id: rs41291967

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48141859C>T , CM000674.2:g.48141859C>T GRCh38
NC_000012.11:g.48535642C>T , CM000674.1:g.48535642C>T GRCh37
NC_000012.10:g.46821909C>T NCBI36
NG_016199.1:g.40987C>T
NG_016199.2:g.41607C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340802.12:c.1713+32C>T ENSP00000345771.6:p.=
ENST00000359794.11:c.1500+32C>T MANE Select ENSP00000352842.5:p.=
ENST00000549941.7:c.1407+32C>T ENSP00000446829.3:p.=
ENST00000550345.6:c.1500+32C>T ENSP00000450369.2:p.=
ENST00000550924.6:c.1500+32C>T ENSP00000446945.2:p.=
ENST00000551339.6:c.1500+32C>T ENSP00000448253.2:p.=
ENST00000642730.1:c.1809+32C>T ENSP00000496597.1:p.=
ENST00000312352.11:c.1500+32C>T ENSP00000309438.7:p.=
ENST00000340802.10:c.1713+32C>T ENSP00000345771.6:p.=
ENST00000359794.9:c.1500+32C>T ENSP00000352842.5:p.=
ENST00000546465.1:c.345+32C>T ENSP00000446519.1:p.=
ENST00000546964.5:n.1824+32C>T
ENST00000547581.5:c.*1768+32C>T ENSP00000447992.1:p.=
ENST00000547587.5:c.1500+32C>T ENSP00000449426.1:p.=
ENST00000550802.1:n.164C>T
ENST00000551804.5:c.1407+32C>T ENSP00000448177.1:p.=
ENST00000552214.1:n.156+32C>T
ENST00000552752.5:n.649+32C>T
ENST00000552818.1:n.123+32C>T
NM_000289.5:c.1500+32C>T NP_000280.1:p.=
NM_001166686.1:c.1713+32C>T NP_001160158.1:p.=
NM_001166687.1:c.1500+32C>T NP_001160159.1:p.=
NM_001166688.1:c.1500+32C>T NP_001160160.1:p.=
XM_005268974.1:c.1809+32C>T XP_005269031.1:p.=
XM_005268975.1:c.1809+32C>T XP_005269032.1:p.=
XM_005268976.2:c.1809+32C>T XP_005269033.1:p.=
XM_005268977.1:c.1713+32C>T XP_005269034.1:p.=
XM_005268978.2:c.1713+32C>T XP_005269035.1:p.=
XM_005268979.1:c.1713+32C>T XP_005269036.1:p.=
XM_011538487.1:c.1716+32C>T XP_011536789.1:p.=
XM_011538488.1:c.1500+32C>T XP_011536790.1:p.=
NM_000289.6:c.1500+32C>T MANE Select NP_000280.1:p.=
NM_001166686.2:c.1713+32C>T NP_001160158.1:p.=
NM_001354735.1:c.1809+32C>T NP_001341664.1:p.=
NM_001354736.1:c.1809+32C>T NP_001341665.1:p.=
NM_001354737.1:c.1713+32C>T NP_001341666.1:p.=
NM_001354738.1:c.1713+32C>T NP_001341667.1:p.=
NM_001354739.1:c.1713+32C>T NP_001341668.1:p.=
NM_001354740.1:c.1644+32C>T NP_001341669.1:p.=
NM_001354741.1:c.1524+32C>T NP_001341670.1:p.=
NM_001354742.1:c.1500+32C>T NP_001341671.1:p.=
NM_001354743.1:c.1500+32C>T NP_001341672.1:p.=
NM_001354744.1:c.1500+32C>T NP_001341673.1:p.=
NM_001354745.1:c.1413+32C>T NP_001341674.1:p.=
NM_001354746.1:c.1374+32C>T NP_001341675.1:p.=
NM_001354747.1:c.1350+32C>T NP_001341676.1:p.=
NM_001354748.1:c.1350+32C>T NP_001341677.1:p.=
NM_001363619.1:c.1407+32C>T NP_001350548.1:p.=
NR_148954.1:n.1937+32C>T
NR_148955.1:n.2573+32C>T
NR_148956.1:n.1863+32C>T
NR_148957.1:n.2092+32C>T
NR_148958.1:n.1840+32C>T
NR_148959.1:n.1766+32C>T
XM_005268976.3:c.1809+32C>T XP_005269033.1:p.=
XM_017019469.1:c.1620+32C>T XP_016874958.1:p.=
XM_024449020.1:c.1722+32C>T XP_024304788.1:p.=
XM_024449021.1:c.1599+32C>T XP_024304789.1:p.=
XM_024449022.1:c.1500+32C>T XP_024304790.1:p.=
NM_001166687.2:c.1500+32C>T NP_001160159.1:p.=
NM_001166688.2:c.1500+32C>T NP_001160160.1:p.=
NM_001354741.2:c.1524+32C>T NP_001341670.1:p.=
NM_001354742.2:c.1500+32C>T NP_001341671.1:p.=
NM_001354743.2:c.1500+32C>T NP_001341672.1:p.=
NM_001354744.2:c.1500+32C>T NP_001341673.1:p.=
NM_001354745.2:c.1413+32C>T NP_001341674.1:p.=
NM_001354746.2:c.1374+32C>T NP_001341675.1:p.=
NM_001354747.2:c.1350+32C>T NP_001341676.1:p.=
NM_001354748.2:c.1350+32C>T NP_001341677.1:p.=
NM_001363619.2:c.1407+32C>T NP_001350548.1:p.=
NR_148954.2:n.1803+32C>T
NR_148956.2:n.1729+32C>T
NR_148957.2:n.1958+32C>T
NR_148958.2:n.1706+32C>T
NR_148959.2:n.1632+32C>T