Canonical Allele Identifier: CA350115839

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191109G>A (hg19) ; chr2:g.208326385G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326385G>A , CM000664.2:g.208326385G>A	GRCh38
NC_000002.11:g.209191109G>A , CM000664.1:g.209191109G>A	GRCh37
NC_000002.10:g.208899354G>A	NCBI36
NG_021188.1:g.65119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3574G>A MANE Select	ENSP00000264380.4:p.Glu1192Lys
ENST00000264380.8:c.3574G>A	ENSP00000264380.4:p.Glu1192Lys
ENST00000452564.1:c.3406G>A	ENSP00000405736.1:p.Glu1136Lys
NM_015040.3:c.3574G>A	NP_055855.2:p.Glu1192Lys
XM_011510778.1:c.3610G>A	XP_011509080.1:p.Glu1204Lys
XM_011510779.1:c.3610G>A	XP_011509081.1:p.Glu1204Lys
XM_011510780.1:c.3607G>A	XP_011509082.1:p.Glu1203Lys
XM_011510781.1:c.3592G>A	XP_011509083.1:p.Glu1198Lys
XM_011510782.1:c.3610G>A	XP_011509084.1:p.Glu1204Lys
XM_011510783.1:c.3442G>A	XP_011509085.1:p.Glu1148Lys
XM_011510784.1:c.3439G>A	XP_011509086.1:p.Glu1147Lys
XM_011510785.1:c.3424G>A	XP_011509087.1:p.Glu1142Lys
XM_011510786.1:c.3319G>A	XP_011509088.1:p.Glu1107Lys
XM_011510787.1:c.3316G>A	XP_011509089.1:p.Glu1106Lys
XM_011510788.1:c.3283G>A	XP_011509090.1:p.Glu1095Lys
XM_011510789.1:c.3133G>A	XP_011509091.1:p.Glu1045Lys
XM_011510790.1:c.2617G>A	XP_011509092.1:p.Glu873Lys
XM_011510791.1:c.2617G>A	XP_011509093.1:p.Glu873Lys
XM_011510792.1:c.3610G>A	XP_011509094.1:p.Glu1204Lys
XR_922888.1:n.3747G>A
XM_011510778.3:c.3610G>A	XP_011509080.1:p.Glu1204Lys
XM_011510779.2:c.3610G>A	XP_011509081.1:p.Glu1204Lys
XM_011510780.2:c.3607G>A	XP_011509082.1:p.Glu1203Lys
XM_011510781.3:c.3592G>A	XP_011509083.1:p.Glu1198Lys
XM_011510782.3:c.3610G>A	XP_011509084.1:p.Glu1204Lys
XM_011510783.3:c.3442G>A	XP_011509085.1:p.Glu1148Lys
XM_011510784.2:c.3439G>A	XP_011509086.1:p.Glu1147Lys
XM_011510785.3:c.3424G>A	XP_011509087.1:p.Glu1142Lys
XM_011510786.3:c.3319G>A	XP_011509088.1:p.Glu1107Lys
XM_011510789.2:c.3133G>A	XP_011509091.1:p.Glu1045Lys
XM_011510792.3:c.3610G>A	XP_011509094.1:p.Glu1204Lys
XM_017003568.1:c.3556G>A	XP_016859057.1:p.Glu1186Lys
XM_017003569.1:c.3388G>A	XP_016859058.1:p.Glu1130Lys
XM_017003570.1:c.3115G>A	XP_016859059.1:p.Glu1039Lys
XM_017003571.1:c.2965G>A	XP_016859060.1:p.Glu989Lys
XM_017003572.1:c.2617G>A	XP_016859061.1:p.Glu873Lys
XM_017003573.1:c.2617G>A	XP_016859062.1:p.Glu873Lys
XM_017003574.1:c.2617G>A	XP_016859063.1:p.Glu873Lys
NM_015040.4:c.3574G>A MANE Select	NP_055855.2:p.Glu1192Lys