Canonical Allele Identifier: CA479450518

Gene: PFKM

Linked Data

• MyVariant Identifiers: chr12:g.48524180T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48130397T>G , CM000674.2:g.48130397T>G	GRCh38
NC_000012.11:g.48524180T>G , CM000674.1:g.48524180T>G	GRCh37
NC_000012.10:g.46810447T>G	NCBI36
NG_016199.1:g.29525T>G
NG_016199.2:g.30145T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000550257.7:c.342T>G	ENSP00000447997.3:p.Val114=
ENST00000340802.12:c.333T>G	ENSP00000345771.6:p.Val111=
ENST00000359794.11:c.120T>G MANE Select	ENSP00000352842.5:p.Val40=
ENST00000549941.7:c.120T>G	ENSP00000446829.3:p.Val40=
ENST00000550257.6:c.228T>G	ENSP00000447997.2:p.Val76=
ENST00000550345.6:c.120T>G	ENSP00000450369.2:p.Val40=
ENST00000550924.6:c.120T>G	ENSP00000446945.2:p.Val40=
ENST00000551339.6:c.120T>G	ENSP00000448253.2:p.Val40=
ENST00000642730.1:c.429T>G	ENSP00000496597.1:p.Val143=
ENST00000312352.11:c.120T>G	ENSP00000309438.7:p.Val40=
ENST00000340802.10:c.333T>G	ENSP00000345771.6:p.Val111=
ENST00000359794.9:c.120T>G	ENSP00000352842.5:p.Val40=
ENST00000546465.1:c.85+7538T>G	ENSP00000446519.1:n.85+7538T>G
ENST00000546964.5:n.192T>G
ENST00000547066.5:c.*136T>G	ENSP00000448318.1:n.*136T>G
ENST00000547581.5:c.*136T>G	ENSP00000447992.1:n.*136T>G
ENST00000547587.5:c.120T>G	ENSP00000449426.1:p.Val40=
ENST00000548288.5:c.333T>G	ENSP00000448018.1:p.Val111=
ENST00000548345.5:c.120T>G	ENSP00000449269.1:p.Val40=
ENST00000548720.5:n.187T>G
ENST00000549003.5:c.120T>G	ENSP00000449835.1:p.Val40=
ENST00000549022.5:c.120T>G	ENSP00000446805.1:p.Val40=
ENST00000549366.5:c.429T>G	ENSP00000449622.1:p.Val143=
ENST00000549941.5:c.219T>G	ENSP00000446829.1:p.Val73=
ENST00000550257.5:c.342T>G	ENSP00000447997.1:p.Val114=
ENST00000550345.5:c.120T>G	ENSP00000450369.1:p.Val40=
ENST00000550924.5:c.120T>G	ENSP00000446945.1:p.Val40=
ENST00000551339.5:c.120T>G	ENSP00000448253.1:p.Val40=
ENST00000551485.5:c.120T>G	ENSP00000448315.1:p.Val40=
ENST00000551548.5:n.183T>G
ENST00000551804.5:c.120T>G	ENSP00000448177.1:p.Val40=
ENST00000552792.5:c.333T>G	ENSP00000448940.1:p.Val111=
ENST00000552989.5:c.86-3842T>G	ENSP00000447774.1:n.86-3842T>G
ENST00000629846.2:c.120T>G	ENSP00000486196.1:p.Val40=
NM_000289.5:c.120T>G	NP_000280.1:p.Val40=
NM_001166686.1:c.333T>G	NP_001160158.1:p.Val111=
NM_001166687.1:c.120T>G	NP_001160159.1:p.Val40=
NM_001166688.1:c.120T>G	NP_001160160.1:p.Val40=
XM_005268974.1:c.429T>G	XP_005269031.1:p.Val143=
XM_005268975.1:c.429T>G	XP_005269032.1:p.Val143=
XM_005268976.2:c.429T>G	XP_005269033.1:p.Val143=
XM_005268977.1:c.333T>G	XP_005269034.1:p.Val111=
XM_005268978.2:c.333T>G	XP_005269035.1:p.Val111=
XM_005268979.1:c.333T>G	XP_005269036.1:p.Val111=
XM_011538487.1:c.429T>G	XP_011536789.1:p.Val143=
XM_011538488.1:c.120T>G	XP_011536790.1:p.Val40=
NM_000289.6:c.120T>G MANE Select	NP_000280.1:p.Val40=
NM_001166686.2:c.333T>G	NP_001160158.1:p.Val111=
NM_001354735.1:c.429T>G	NP_001341664.1:p.Val143=
NM_001354736.1:c.429T>G	NP_001341665.1:p.Val143=
NM_001354737.1:c.333T>G	NP_001341666.1:p.Val111=
NM_001354738.1:c.333T>G	NP_001341667.1:p.Val111=
NM_001354739.1:c.333T>G	NP_001341668.1:p.Val111=
NM_001354740.1:c.264T>G	NP_001341669.1:p.Val88=
NM_001354741.1:c.144T>G	NP_001341670.1:p.Val48=
NM_001354742.1:c.120T>G	NP_001341671.1:p.Val40=
NM_001354743.1:c.120T>G	NP_001341672.1:p.Val40=
NM_001354744.1:c.120T>G	NP_001341673.1:p.Val40=
NM_001354745.1:c.33T>G	NP_001341674.1:p.Val11=
NM_001354746.1:c.120T>G	NP_001341675.1:p.Val40=
NM_001354747.1:c.10-919T>G	NP_001341676.1:n.10-919T>G
NM_001354748.1:c.10-919T>G	NP_001341677.1:n.10-919T>G
NM_001363619.1:c.120T>G	NP_001350548.1:p.Val40=
NR_148954.1:n.305T>G
NR_148955.1:n.941T>G
NR_148956.1:n.271-919T>G
NR_148957.1:n.305T>G
NR_148958.1:n.305T>G
NR_148959.1:n.271-919T>G
XM_005268976.3:c.429T>G	XP_005269033.1:p.Val143=
XM_017019469.1:c.333T>G	XP_016874958.1:p.Val111=
XM_024449020.1:c.342T>G	XP_024304788.1:p.Val114=
XM_024449021.1:c.219T>G	XP_024304789.1:p.Val73=
XM_024449022.1:c.120T>G	XP_024304790.1:p.Val40=
NM_001166687.2:c.120T>G	NP_001160159.1:p.Val40=
NM_001166688.2:c.120T>G	NP_001160160.1:p.Val40=
NM_001354741.2:c.144T>G	NP_001341670.1:p.Val48=
NM_001354742.2:c.120T>G	NP_001341671.1:p.Val40=
NM_001354743.2:c.120T>G	NP_001341672.1:p.Val40=
NM_001354744.2:c.120T>G	NP_001341673.1:p.Val40=
NM_001354745.2:c.33T>G	NP_001341674.1:p.Val11=
NM_001354746.2:c.120T>G	NP_001341675.1:p.Val40=
NM_001354747.2:c.10-919T>G	NP_001341676.1:n.10-919T>G
NM_001354748.2:c.10-919T>G	NP_001341677.1:n.10-919T>G
NM_001363619.2:c.120T>G	NP_001350548.1:p.Val40=
NR_148954.2:n.171T>G
NR_148956.2:n.137-919T>G
NR_148957.2:n.171T>G
NR_148958.2:n.171T>G
NR_148959.2:n.137-919T>G