Canonical Allele Identifier: CA236509848

Gene: PFKM MIR6505

Linked Data

• dbSNP Id: rs760656453
• gnomAD v4: 12-48132823-T-G
• MyVariant Identifiers: chr12:g.48526606T>G (hg19) ; chr12:g.48132823T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48132823T>G , CM000674.2:g.48132823T>G	GRCh38
NC_000012.11:g.48526606T>G , CM000674.1:g.48526606T>G	GRCh37
NC_000012.10:g.46812873T>G	NCBI36
NG_016199.1:g.31951T>G
NG_016199.2:g.32571T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000550257.7:c.460-45T>G (PFKM)	ENSP00000447997.3:n.460-45T>G
ENST00000340802.12:c.451-45T>G (PFKM)	ENSP00000345771.6:n.451-45T>G
ENST00000359794.11:c.238-45T>G (PFKM) MANE Select	ENSP00000352842.5:n.238-45T>G
ENST00000549941.7:c.238-45T>G (PFKM)	ENSP00000446829.3:n.238-45T>G
ENST00000550345.6:c.238-45T>G (PFKM)	ENSP00000450369.2:n.238-45T>G
ENST00000550924.6:c.238-45T>G (PFKM)	ENSP00000446945.2:n.238-45T>G
ENST00000551339.6:c.238-45T>G (PFKM)	ENSP00000448253.2:n.238-45T>G
ENST00000642730.1:c.547-45T>G (PFKM)	ENSP00000496597.1:n.547-45T>G
ENST00000312352.11:c.238-45T>G (PFKM)	ENSP00000309438.7:n.238-45T>G
ENST00000340802.10:c.451-45T>G (PFKM)	ENSP00000345771.6:n.451-45T>G
ENST00000359794.9:c.238-45T>G (PFKM)	ENSP00000352842.5:n.238-45T>G
ENST00000546465.1:c.86-7948T>G (PFKM)	ENSP00000446519.1:n.86-7948T>G
ENST00000546964.5:n.310-45T>G (PFKM)
ENST00000547581.5:c.*254-45T>G (PFKM)	ENSP00000447992.1:n.*254-45T>G
ENST00000547587.5:c.238-45T>G (PFKM)	ENSP00000449426.1:n.238-45T>G
ENST00000548345.5:c.238-45T>G (PFKM)	ENSP00000449269.1:n.238-45T>G
ENST00000549003.5:c.238-45T>G (PFKM)	ENSP00000449835.1:n.238-45T>G
ENST00000549022.5:c.238-45T>G (PFKM)	ENSP00000446805.1:n.238-45T>G
ENST00000549941.5:c.337-45T>G (PFKM)	ENSP00000446829.1:n.337-45T>G
ENST00000550345.5:c.238-45T>G (PFKM)	ENSP00000450369.1:n.238-45T>G
ENST00000550924.5:c.238-45T>G (PFKM)	ENSP00000446945.1:n.238-45T>G
ENST00000551339.5:c.238-45T>G (PFKM)	ENSP00000448253.1:n.238-45T>G
ENST00000551485.5:c.*122-45T>G (PFKM)	ENSP00000448315.1:n.*122-45T>G
ENST00000551804.5:c.238-45T>G (PFKM)	ENSP00000448177.1:n.238-45T>G
ENST00000552989.5:c.86-1416T>G (PFKM)	ENSP00000447774.1:n.86-1416T>G
NM_000289.5:c.238-45T>G (PFKM)	NP_000280.1:n.238-45T>G
NM_001166686.1:c.451-45T>G (PFKM)	NP_001160158.1:n.451-45T>G
NM_001166687.1:c.238-45T>G (PFKM)	NP_001160159.1:n.238-45T>G
NM_001166688.1:c.238-45T>G (PFKM)	NP_001160160.1:n.238-45T>G
NR_106760.1:n.27T>G (MIR6505)
XM_005268974.1:c.547-45T>G (PFKM)	XP_005269031.1:n.547-45T>G
XM_005268975.1:c.547-45T>G (PFKM)	XP_005269032.1:n.547-45T>G
XM_005268976.2:c.547-45T>G (PFKM)	XP_005269033.1:n.547-45T>G
XM_005268977.1:c.451-45T>G (PFKM)	XP_005269034.1:n.451-45T>G
XM_005268978.2:c.451-45T>G (PFKM)	XP_005269035.1:n.451-45T>G
XM_005268979.1:c.451-45T>G (PFKM)	XP_005269036.1:n.451-45T>G
XM_011538487.1:c.547-45T>G (PFKM)	XP_011536789.1:n.547-45T>G
XM_011538488.1:c.238-45T>G (PFKM)	XP_011536790.1:n.238-45T>G
NM_000289.6:c.238-45T>G (PFKM) MANE Select	NP_000280.1:n.238-45T>G
NM_001166686.2:c.451-45T>G (PFKM)	NP_001160158.1:n.451-45T>G
NM_001354735.1:c.547-45T>G (PFKM)	NP_001341664.1:n.547-45T>G
NM_001354736.1:c.547-45T>G (PFKM)	NP_001341665.1:n.547-45T>G
NM_001354737.1:c.451-45T>G (PFKM)	NP_001341666.1:n.451-45T>G
NM_001354738.1:c.451-45T>G (PFKM)	NP_001341667.1:n.451-45T>G
NM_001354739.1:c.451-45T>G (PFKM)	NP_001341668.1:n.451-45T>G
NM_001354740.1:c.382-45T>G (PFKM)	NP_001341669.1:n.382-45T>G
NM_001354741.1:c.262-45T>G (PFKM)	NP_001341670.1:n.262-45T>G
NM_001354742.1:c.238-45T>G (PFKM)	NP_001341671.1:n.238-45T>G
NM_001354743.1:c.238-45T>G (PFKM)	NP_001341672.1:n.238-45T>G
NM_001354744.1:c.238-45T>G (PFKM)	NP_001341673.1:n.238-45T>G
NM_001354745.1:c.151-45T>G (PFKM)	NP_001341674.1:n.151-45T>G
NM_001354746.1:c.238-45T>G (PFKM)	NP_001341675.1:n.238-45T>G
NM_001354747.1:c.88-45T>G (PFKM)	NP_001341676.1:n.88-45T>G
NM_001354748.1:c.88-45T>G (PFKM)	NP_001341677.1:n.88-45T>G
NM_001363619.1:c.238-45T>G (PFKM)	NP_001350548.1:n.238-45T>G
NR_148954.1:n.423-45T>G (PFKM)
NR_148955.1:n.1059-45T>G (PFKM)
NR_148956.1:n.349-45T>G (PFKM)
NR_148957.1:n.423-45T>G (PFKM)
NR_148958.1:n.423-45T>G (PFKM)
NR_148959.1:n.349-45T>G (PFKM)
XM_005268976.3:c.547-45T>G (PFKM)	XP_005269033.1:n.547-45T>G
XM_017019469.1:c.451-45T>G (PFKM)	XP_016874958.1:n.451-45T>G
XM_024449020.1:c.460-45T>G (PFKM)	XP_024304788.1:n.460-45T>G
XM_024449021.1:c.337-45T>G (PFKM)	XP_024304789.1:n.337-45T>G
XM_024449022.1:c.238-45T>G (PFKM)	XP_024304790.1:n.238-45T>G
NM_001166687.2:c.238-45T>G (PFKM)	NP_001160159.1:n.238-45T>G
NM_001166688.2:c.238-45T>G (PFKM)	NP_001160160.1:n.238-45T>G
NM_001354741.2:c.262-45T>G (PFKM)	NP_001341670.1:n.262-45T>G
NM_001354742.2:c.238-45T>G (PFKM)	NP_001341671.1:n.238-45T>G
NM_001354743.2:c.238-45T>G (PFKM)	NP_001341672.1:n.238-45T>G
NM_001354744.2:c.238-45T>G (PFKM)	NP_001341673.1:n.238-45T>G
NM_001354745.2:c.151-45T>G (PFKM)	NP_001341674.1:n.151-45T>G
NM_001354746.2:c.238-45T>G (PFKM)	NP_001341675.1:n.238-45T>G
NM_001354747.2:c.88-45T>G (PFKM)	NP_001341676.1:n.88-45T>G
NM_001354748.2:c.88-45T>G (PFKM)	NP_001341677.1:n.88-45T>G
NM_001363619.2:c.238-45T>G (PFKM)	NP_001350548.1:n.238-45T>G
NR_148954.2:n.289-45T>G (PFKM)
NR_148956.2:n.215-45T>G (PFKM)
NR_148957.2:n.289-45T>G (PFKM)
NR_148958.2:n.289-45T>G (PFKM)
NR_148959.2:n.215-45T>G (PFKM)