Canonical Allele Identifier: CA6536747

Gene: PFKM

Linked Data

• ClinVar Variation Id: 441153
• ClinVar RCV Id: RCV001284933
• dbSNP Id: rs11609399
• ExAC: 12:48501161 A / T
• gnomAD v2: 12-48501161-A-T
• gnomAD v3: 12-48107378-A-T
• gnomAD v4: 12-48107378-A-T
• MyVariant Identifiers: chr12:g.48501161A>T (hg19) ; chr12:g.48107378A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48107378A>T , CM000674.2:g.48107378A>T	GRCh38
NC_000012.11:g.48501161A>T , CM000674.1:g.48501161A>T	GRCh37
NC_000012.10:g.46787428A>T	NCBI36
NG_016199.1:g.6506A>T
NG_016199.2:g.7126A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000550257.7:c.92-694A>T	ENSP00000447997.3:n.92-694A>T
ENST00000340802.12:c.5A>T	ENSP00000345771.6:p.His2Leu
ENST00000549941.7:c.-9+1241A>T	ENSP00000446829.3:n.-9+1241A>T
ENST00000550257.6:c.-23-694A>T	ENSP00000447997.2:n.-23-694A>T
ENST00000550345.6:c.-9+1959A>T	ENSP00000450369.2:n.-9+1959A>T
ENST00000550924.6:c.-9+1568A>T	ENSP00000446945.2:n.-9+1568A>T
ENST00000642730.1:c.5A>T	ENSP00000496597.1:p.His2Leu
ENST00000340802.10:c.5A>T	ENSP00000345771.6:p.His2Leu
ENST00000546755.5:c.5A>T	ENSP00000450173.1:p.His2Leu
ENST00000547581.5:c.5A>T	ENSP00000447992.1:p.His2Leu
ENST00000548288.5:c.5A>T	ENSP00000448018.1:p.His2Leu
ENST00000549003.5:c.-9+1661A>T	ENSP00000449835.1:n.-9+1661A>T
ENST00000549366.5:c.5A>T	ENSP00000449622.1:p.His2Leu
ENST00000549941.5:c.91+1241A>T	ENSP00000446829.1:n.91+1241A>T
ENST00000550257.5:c.92-694A>T	ENSP00000447997.1:n.92-694A>T
ENST00000550345.5:c.-9+1959A>T	ENSP00000450369.1:n.-9+1959A>T
ENST00000550924.5:c.-9+1568A>T	ENSP00000446945.1:n.-9+1568A>T
ENST00000552792.5:c.5A>T	ENSP00000448940.1:p.His2Leu
NM_001166686.1:c.5A>T	NP_001160158.1:p.His2Leu
XM_005268974.1:c.5A>T	XP_005269031.1:p.His2Leu
XM_005268975.1:c.5A>T	XP_005269032.1:p.His2Leu
XM_005268976.2:c.5A>T	XP_005269033.1:p.His2Leu
XM_005268977.1:c.5A>T	XP_005269034.1:p.His2Leu
XM_005268978.2:c.5A>T	XP_005269035.1:p.His2Leu
XM_005268979.1:c.5A>T	XP_005269036.1:p.His2Leu
XM_011538487.1:c.5A>T	XP_011536789.1:p.His2Leu
XM_011538488.1:c.-9+1959A>T	XP_011536790.1:n.-9+1959A>T
NM_001166686.2:c.5A>T	NP_001160158.1:p.His2Leu
NM_001354735.1:c.5A>T	NP_001341664.1:p.His2Leu
NM_001354736.1:c.5A>T	NP_001341665.1:p.His2Leu
NM_001354737.1:c.5A>T	NP_001341666.1:p.His2Leu
NM_001354738.1:c.5A>T	NP_001341667.1:p.His2Leu
NM_001354739.1:c.5A>T	NP_001341668.1:p.His2Leu
NM_001354741.1:c.-81+1959A>T	NP_001341670.1:n.-81+1959A>T
NM_001354742.1:c.-9+1959A>T	NP_001341671.1:n.-9+1959A>T
NM_001354743.1:c.-9+1568A>T	NP_001341672.1:n.-9+1568A>T
NM_001354747.1:c.-85+1959A>T	NP_001341676.1:n.-85+1959A>T
NR_148955.1:n.279A>T
XM_005268976.3:c.5A>T	XP_005269033.1:p.His2Leu
XM_017019469.1:c.5A>T	XP_016874958.1:p.His2Leu
XM_024449020.1:c.92-694A>T	XP_024304788.1:n.92-694A>T
XM_024449021.1:c.91+1241A>T	XP_024304789.1:n.91+1241A>T
NM_001354741.2:c.-81+1959A>T	NP_001341670.1:n.-81+1959A>T
NM_001354742.2:c.-9+1959A>T	NP_001341671.1:n.-9+1959A>T
NM_001354743.2:c.-9+1568A>T	NP_001341672.1:n.-9+1568A>T
NM_001354747.2:c.-85+1959A>T	NP_001341676.1:n.-85+1959A>T