Canonical Allele Identifier: CA6537516

Gene: PFKM

Linked Data

• ClinVar Variation Id: 779604
• ClinVar RCV Id: RCV000960475
• dbSNP Id: rs369893708
• ExAC: 12:48538861 C / T
• gnomAD v2: 12-48538861-C-T
• gnomAD v3: 12-48145078-C-T
• gnomAD v4: 12-48145078-C-T
• MyVariant Identifiers: chr12:g.48538861C>T (hg19) ; chr12:g.48145078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48145078C>T , CM000674.2:g.48145078C>T	GRCh38
NC_000012.11:g.48538861C>T , CM000674.1:g.48538861C>T	GRCh37
NC_000012.10:g.46825128C>T	NCBI36
NG_016199.1:g.44206C>T
NG_016199.2:g.44826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550257.7:c.2262C>T	ENSP00000447997.3:p.Gly754=
ENST00000340802.12:c.2253C>T	ENSP00000345771.6:p.Gly751=
ENST00000359794.11:c.2040C>T MANE Select	ENSP00000352842.5:p.Gly680=
ENST00000549941.7:c.1782C>T	ENSP00000446829.3:p.Gly594=
ENST00000550345.6:c.2040C>T	ENSP00000450369.2:p.Gly680=
ENST00000550924.6:c.2040C>T	ENSP00000446945.2:p.Gly680=
ENST00000551339.6:c.2040C>T	ENSP00000448253.2:p.Gly680=
ENST00000642730.1:c.2349C>T	ENSP00000496597.1:p.Gly783=
ENST00000312352.11:c.2040C>T	ENSP00000309438.7:p.Gly680=
ENST00000340802.10:c.2253C>T	ENSP00000345771.6:p.Gly751=
ENST00000359794.9:c.2040C>T	ENSP00000352842.5:p.Gly680=
ENST00000546964.5:n.2364C>T
ENST00000547581.5:c.*2308C>T	ENSP00000447992.1:n.*2308C>T
ENST00000547587.5:c.2040C>T	ENSP00000449426.1:p.Gly680=
ENST00000551804.5:c.1947C>T	ENSP00000448177.1:p.Gly649=
NM_000289.5:c.2040C>T	NP_000280.1:p.Gly680=
NM_001166686.1:c.2253C>T	NP_001160158.1:p.Gly751=
NM_001166687.1:c.2040C>T	NP_001160159.1:p.Gly680=
NM_001166688.1:c.2040C>T	NP_001160160.1:p.Gly680=
XM_005268974.1:c.2349C>T	XP_005269031.1:p.Gly783=
XM_005268975.1:c.2349C>T	XP_005269032.1:p.Gly783=
XM_005268976.2:c.2349C>T	XP_005269033.1:p.Gly783=
XM_005268977.1:c.2253C>T	XP_005269034.1:p.Gly751=
XM_005268978.2:c.2253C>T	XP_005269035.1:p.Gly751=
XM_005268979.1:c.2253C>T	XP_005269036.1:p.Gly751=
XM_011538487.1:c.2256C>T	XP_011536789.1:p.Gly752=
XM_011538488.1:c.2040C>T	XP_011536790.1:p.Gly680=
NM_000289.6:c.2040C>T MANE Select	NP_000280.1:p.Gly680=
NM_001166686.2:c.2253C>T	NP_001160158.1:p.Gly751=
NM_001354735.1:c.2349C>T	NP_001341664.1:p.Gly783=
NM_001354736.1:c.2349C>T	NP_001341665.1:p.Gly783=
NM_001354737.1:c.2253C>T	NP_001341666.1:p.Gly751=
NM_001354738.1:c.2253C>T	NP_001341667.1:p.Gly751=
NM_001354739.1:c.2253C>T	NP_001341668.1:p.Gly751=
NM_001354740.1:c.2184C>T	NP_001341669.1:p.Gly728=
NM_001354741.1:c.2064C>T	NP_001341670.1:p.Gly688=
NM_001354742.1:c.2040C>T	NP_001341671.1:p.Gly680=
NM_001354743.1:c.2040C>T	NP_001341672.1:p.Gly680=
NM_001354744.1:c.2040C>T	NP_001341673.1:p.Gly680=
NM_001354745.1:c.1953C>T	NP_001341674.1:p.Gly651=
NM_001354746.1:c.1914C>T	NP_001341675.1:p.Gly638=
NM_001354747.1:c.1890C>T	NP_001341676.1:p.Gly630=
NM_001354748.1:c.1890C>T	NP_001341677.1:p.Gly630=
NM_001363619.1:c.1947C>T	NP_001350548.1:p.Gly649=
NR_148954.1:n.2477C>T
NR_148955.1:n.3113C>T
NR_148956.1:n.2403C>T
NR_148957.1:n.2632C>T
NR_148958.1:n.2380C>T
NR_148959.1:n.2306C>T
XM_005268976.3:c.2349C>T	XP_005269033.1:p.Gly783=
XM_017019469.1:c.2160C>T	XP_016874958.1:p.Gly720=
XM_024449020.1:c.2262C>T	XP_024304788.1:p.Gly754=
XM_024449021.1:c.2139C>T	XP_024304789.1:p.Gly713=
XM_024449022.1:c.2040C>T	XP_024304790.1:p.Gly680=
NM_001166687.2:c.2040C>T	NP_001160159.1:p.Gly680=
NM_001166688.2:c.2040C>T	NP_001160160.1:p.Gly680=
NM_001354741.2:c.2064C>T	NP_001341670.1:p.Gly688=
NM_001354742.2:c.2040C>T	NP_001341671.1:p.Gly680=
NM_001354743.2:c.2040C>T	NP_001341672.1:p.Gly680=
NM_001354744.2:c.2040C>T	NP_001341673.1:p.Gly680=
NM_001354745.2:c.1953C>T	NP_001341674.1:p.Gly651=
NM_001354746.2:c.1914C>T	NP_001341675.1:p.Gly638=
NM_001354747.2:c.1890C>T	NP_001341676.1:p.Gly630=
NM_001354748.2:c.1890C>T	NP_001341677.1:p.Gly630=
NM_001363619.2:c.1947C>T	NP_001350548.1:p.Gly649=
NR_148954.2:n.2343C>T
NR_148956.2:n.2269C>T
NR_148957.2:n.2498C>T
NR_148958.2:n.2246C>T
NR_148959.2:n.2172C>T