Canonical Allele Identifier: CA384551818

Gene: PFKM

Linked Data

• MyVariant Identifiers: chr12:g.48535563A>T (hg19) ; chr12:g.48141780A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48141780A>T , CM000674.2:g.48141780A>T	GRCh38
NC_000012.11:g.48535563A>T , CM000674.1:g.48535563A>T	GRCh37
NC_000012.10:g.46821830A>T	NCBI36
NG_016199.1:g.40908A>T
NG_016199.2:g.41528A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550257.7:c.1675A>T	ENSP00000447997.3:p.Ile559Leu
ENST00000340802.12:c.1666A>T	ENSP00000345771.6:p.Ile556Leu
ENST00000359794.11:c.1453A>T MANE Select	ENSP00000352842.5:p.Ile485Leu
ENST00000549941.7:c.1360A>T	ENSP00000446829.3:p.Ile454Leu
ENST00000550345.6:c.1453A>T	ENSP00000450369.2:p.Ile485Leu
ENST00000550924.6:c.1453A>T	ENSP00000446945.2:p.Ile485Leu
ENST00000551339.6:c.1453A>T	ENSP00000448253.2:p.Ile485Leu
ENST00000642730.1:c.1762A>T	ENSP00000496597.1:p.Ile588Leu
ENST00000312352.11:c.1453A>T	ENSP00000309438.7:p.Ile485Leu
ENST00000340802.10:c.1666A>T	ENSP00000345771.6:p.Ile556Leu
ENST00000359794.9:c.1453A>T	ENSP00000352842.5:p.Ile485Leu
ENST00000546465.1:c.298A>T	ENSP00000446519.1:p.Ile100Leu
ENST00000546964.5:n.1777A>T
ENST00000547581.5:c.*1721A>T	ENSP00000447992.1:n.*1721A>T
ENST00000547587.5:c.1453A>T	ENSP00000449426.1:p.Ile485Leu
ENST00000550802.1:n.85A>T
ENST00000551804.5:c.1360A>T	ENSP00000448177.1:p.Ile454Leu
ENST00000552214.1:n.109A>T
ENST00000552752.5:c.602A>T
ENST00000552818.1:n.76A>T
NM_000289.5:c.1453A>T	NP_000280.1:p.Ile485Leu
NM_001166686.1:c.1666A>T	NP_001160158.1:p.Ile556Leu
NM_001166687.1:c.1453A>T	NP_001160159.1:p.Ile485Leu
NM_001166688.1:c.1453A>T	NP_001160160.1:p.Ile485Leu
XM_005268974.1:c.1762A>T	XP_005269031.1:p.Ile588Leu
XM_005268975.1:c.1762A>T	XP_005269032.1:p.Ile588Leu
XM_005268976.2:c.1762A>T	XP_005269033.1:p.Ile588Leu
XM_005268977.1:c.1666A>T	XP_005269034.1:p.Ile556Leu
XM_005268978.2:c.1666A>T	XP_005269035.1:p.Ile556Leu
XM_005268979.1:c.1666A>T	XP_005269036.1:p.Ile556Leu
XM_011538487.1:c.1669A>T	XP_011536789.1:p.Ile557Leu
XM_011538488.1:c.1453A>T	XP_011536790.1:p.Ile485Leu
NM_000289.6:c.1453A>T MANE Select	NP_000280.1:p.Ile485Leu
NM_001166686.2:c.1666A>T	NP_001160158.1:p.Ile556Leu
NM_001354735.1:c.1762A>T	NP_001341664.1:p.Ile588Leu
NM_001354736.1:c.1762A>T	NP_001341665.1:p.Ile588Leu
NM_001354737.1:c.1666A>T	NP_001341666.1:p.Ile556Leu
NM_001354738.1:c.1666A>T	NP_001341667.1:p.Ile556Leu
NM_001354739.1:c.1666A>T	NP_001341668.1:p.Ile556Leu
NM_001354740.1:c.1597A>T	NP_001341669.1:p.Ile533Leu
NM_001354741.1:c.1477A>T	NP_001341670.1:p.Ile493Leu
NM_001354742.1:c.1453A>T	NP_001341671.1:p.Ile485Leu
NM_001354743.1:c.1453A>T	NP_001341672.1:p.Ile485Leu
NM_001354744.1:c.1453A>T	NP_001341673.1:p.Ile485Leu
NM_001354745.1:c.1366A>T	NP_001341674.1:p.Ile456Leu
NM_001354746.1:c.1327A>T	NP_001341675.1:p.Ile443Leu
NM_001354747.1:c.1303A>T	NP_001341676.1:p.Ile435Leu
NM_001354748.1:c.1303A>T	NP_001341677.1:p.Ile435Leu
NM_001363619.1:c.1360A>T	NP_001350548.1:p.Ile454Leu
NR_148954.1:n.1890A>T
NR_148955.1:n.2526A>T
NR_148956.1:n.1816A>T
NR_148957.1:n.2045A>T
NR_148958.1:n.1793A>T
NR_148959.1:n.1719A>T
XM_005268976.3:c.1762A>T	XP_005269033.1:p.Ile588Leu
XM_017019469.1:c.1573A>T	XP_016874958.1:p.Ile525Leu
XM_024449020.1:c.1675A>T	XP_024304788.1:p.Ile559Leu
XM_024449021.1:c.1552A>T	XP_024304789.1:p.Ile518Leu
XM_024449022.1:c.1453A>T	XP_024304790.1:p.Ile485Leu
NM_001166687.2:c.1453A>T	NP_001160159.1:p.Ile485Leu
NM_001166688.2:c.1453A>T	NP_001160160.1:p.Ile485Leu
NM_001354741.2:c.1477A>T	NP_001341670.1:p.Ile493Leu
NM_001354742.2:c.1453A>T	NP_001341671.1:p.Ile485Leu
NM_001354743.2:c.1453A>T	NP_001341672.1:p.Ile485Leu
NM_001354744.2:c.1453A>T	NP_001341673.1:p.Ile485Leu
NM_001354745.2:c.1366A>T	NP_001341674.1:p.Ile456Leu
NM_001354746.2:c.1327A>T	NP_001341675.1:p.Ile443Leu
NM_001354747.2:c.1303A>T	NP_001341676.1:p.Ile435Leu
NM_001354748.2:c.1303A>T	NP_001341677.1:p.Ile435Leu
NM_001363619.2:c.1360A>T	NP_001350548.1:p.Ile454Leu
NR_148954.2:n.1756A>T
NR_148956.2:n.1682A>T
NR_148957.2:n.1911A>T
NR_148958.2:n.1659A>T
NR_148959.2:n.1585A>T