Canonical Allele Identifier: CA236519702

Gene: PFKM

Linked Data

• ClinVar Variation Id: 1672128
• ClinVar RCV Id: RCV002201528
• dbSNP Id: rs770758369
• gnomAD v2: 12-48538816-T-C
• gnomAD v4: 12-48145033-T-C
• MyVariant Identifiers: chr12:g.48538816T>C (hg19) ; chr12:g.48145033T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48145033T>C , CM000674.2:g.48145033T>C	GRCh38
NC_000012.11:g.48538816T>C , CM000674.1:g.48538816T>C	GRCh37
NC_000012.10:g.46825083T>C	NCBI36
NG_016199.1:g.44161T>C
NG_016199.2:g.44781T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000550257.7:c.2217T>C	ENSP00000447997.3:p.Gly739=
ENST00000340802.12:c.2208T>C	ENSP00000345771.6:p.Gly736=
ENST00000359794.11:c.1995T>C MANE Select	ENSP00000352842.5:p.Gly665=
ENST00000549941.7:c.1737T>C	ENSP00000446829.3:p.Gly579=
ENST00000550345.6:c.1995T>C	ENSP00000450369.2:p.Gly665=
ENST00000550924.6:c.1995T>C	ENSP00000446945.2:p.Gly665=
ENST00000551339.6:c.1995T>C	ENSP00000448253.2:p.Gly665=
ENST00000642730.1:c.2304T>C	ENSP00000496597.1:p.Gly768=
ENST00000312352.11:c.1995T>C	ENSP00000309438.7:p.Gly665=
ENST00000340802.10:c.2208T>C	ENSP00000345771.6:p.Gly736=
ENST00000359794.9:c.1995T>C	ENSP00000352842.5:p.Gly665=
ENST00000546964.5:n.2319T>C
ENST00000547581.5:c.*2263T>C	ENSP00000447992.1:n.*2263T>C
ENST00000547587.5:c.1995T>C	ENSP00000449426.1:p.Gly665=
ENST00000551804.5:c.1902T>C	ENSP00000448177.1:p.Gly634=
ENST00000553055.1:c.271T>C
NM_000289.5:c.1995T>C	NP_000280.1:p.Gly665=
NM_001166686.1:c.2208T>C	NP_001160158.1:p.Gly736=
NM_001166687.1:c.1995T>C	NP_001160159.1:p.Gly665=
NM_001166688.1:c.1995T>C	NP_001160160.1:p.Gly665=
XM_005268974.1:c.2304T>C	XP_005269031.1:p.Gly768=
XM_005268975.1:c.2304T>C	XP_005269032.1:p.Gly768=
XM_005268976.2:c.2304T>C	XP_005269033.1:p.Gly768=
XM_005268977.1:c.2208T>C	XP_005269034.1:p.Gly736=
XM_005268978.2:c.2208T>C	XP_005269035.1:p.Gly736=
XM_005268979.1:c.2208T>C	XP_005269036.1:p.Gly736=
XM_011538487.1:c.2211T>C	XP_011536789.1:p.Gly737=
XM_011538488.1:c.1995T>C	XP_011536790.1:p.Gly665=
NM_000289.6:c.1995T>C MANE Select	NP_000280.1:p.Gly665=
NM_001166686.2:c.2208T>C	NP_001160158.1:p.Gly736=
NM_001354735.1:c.2304T>C	NP_001341664.1:p.Gly768=
NM_001354736.1:c.2304T>C	NP_001341665.1:p.Gly768=
NM_001354737.1:c.2208T>C	NP_001341666.1:p.Gly736=
NM_001354738.1:c.2208T>C	NP_001341667.1:p.Gly736=
NM_001354739.1:c.2208T>C	NP_001341668.1:p.Gly736=
NM_001354740.1:c.2139T>C	NP_001341669.1:p.Gly713=
NM_001354741.1:c.2019T>C	NP_001341670.1:p.Gly673=
NM_001354742.1:c.1995T>C	NP_001341671.1:p.Gly665=
NM_001354743.1:c.1995T>C	NP_001341672.1:p.Gly665=
NM_001354744.1:c.1995T>C	NP_001341673.1:p.Gly665=
NM_001354745.1:c.1908T>C	NP_001341674.1:p.Gly636=
NM_001354746.1:c.1869T>C	NP_001341675.1:p.Gly623=
NM_001354747.1:c.1845T>C	NP_001341676.1:p.Gly615=
NM_001354748.1:c.1845T>C	NP_001341677.1:p.Gly615=
NM_001363619.1:c.1902T>C	NP_001350548.1:p.Gly634=
NR_148954.1:n.2432T>C
NR_148955.1:n.3068T>C
NR_148956.1:n.2358T>C
NR_148957.1:n.2587T>C
NR_148958.1:n.2335T>C
NR_148959.1:n.2261T>C
XM_005268976.3:c.2304T>C	XP_005269033.1:p.Gly768=
XM_017019469.1:c.2115T>C	XP_016874958.1:p.Gly705=
XM_024449020.1:c.2217T>C	XP_024304788.1:p.Gly739=
XM_024449021.1:c.2094T>C	XP_024304789.1:p.Gly698=
XM_024449022.1:c.1995T>C	XP_024304790.1:p.Gly665=
NM_001166687.2:c.1995T>C	NP_001160159.1:p.Gly665=
NM_001166688.2:c.1995T>C	NP_001160160.1:p.Gly665=
NM_001354741.2:c.2019T>C	NP_001341670.1:p.Gly673=
NM_001354742.2:c.1995T>C	NP_001341671.1:p.Gly665=
NM_001354743.2:c.1995T>C	NP_001341672.1:p.Gly665=
NM_001354744.2:c.1995T>C	NP_001341673.1:p.Gly665=
NM_001354745.2:c.1908T>C	NP_001341674.1:p.Gly636=
NM_001354746.2:c.1869T>C	NP_001341675.1:p.Gly623=
NM_001354747.2:c.1845T>C	NP_001341676.1:p.Gly615=
NM_001354748.2:c.1845T>C	NP_001341677.1:p.Gly615=
NM_001363619.2:c.1902T>C	NP_001350548.1:p.Gly634=
NR_148954.2:n.2298T>C
NR_148956.2:n.2224T>C
NR_148957.2:n.2453T>C
NR_148958.2:n.2201T>C
NR_148959.2:n.2127T>C