Canonical Allele Identifier: CA350115849

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191112G>T (hg19) ; chr2:g.208326388G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326388G>T , CM000664.2:g.208326388G>T	GRCh38
NC_000002.11:g.209191112G>T , CM000664.1:g.209191112G>T	GRCh37
NC_000002.10:g.208899357G>T	NCBI36
NG_021188.1:g.65122G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3577G>T MANE Select	ENSP00000264380.4:p.Glu1193Ter
ENST00000264380.8:c.3577G>T	ENSP00000264380.4:p.Glu1193Ter
ENST00000452564.1:c.3409G>T	ENSP00000405736.1:p.Glu1137Ter
NM_015040.3:c.3577G>T	NP_055855.2:p.Glu1193Ter
XM_011510778.1:c.3613G>T	XP_011509080.1:p.Glu1205Ter
XM_011510779.1:c.3613G>T	XP_011509081.1:p.Glu1205Ter
XM_011510780.1:c.3610G>T	XP_011509082.1:p.Glu1204Ter
XM_011510781.1:c.3595G>T	XP_011509083.1:p.Glu1199Ter
XM_011510782.1:c.3613G>T	XP_011509084.1:p.Glu1205Ter
XM_011510783.1:c.3445G>T	XP_011509085.1:p.Glu1149Ter
XM_011510784.1:c.3442G>T	XP_011509086.1:p.Glu1148Ter
XM_011510785.1:c.3427G>T	XP_011509087.1:p.Glu1143Ter
XM_011510786.1:c.3322G>T	XP_011509088.1:p.Glu1108Ter
XM_011510787.1:c.3319G>T	XP_011509089.1:p.Glu1107Ter
XM_011510788.1:c.3286G>T	XP_011509090.1:p.Glu1096Ter
XM_011510789.1:c.3136G>T	XP_011509091.1:p.Glu1046Ter
XM_011510790.1:c.2620G>T	XP_011509092.1:p.Glu874Ter
XM_011510791.1:c.2620G>T	XP_011509093.1:p.Glu874Ter
XM_011510792.1:c.3613G>T	XP_011509094.1:p.Glu1205Ter
XR_922888.1:n.3750G>T
XM_011510778.3:c.3613G>T	XP_011509080.1:p.Glu1205Ter
XM_011510779.2:c.3613G>T	XP_011509081.1:p.Glu1205Ter
XM_011510780.2:c.3610G>T	XP_011509082.1:p.Glu1204Ter
XM_011510781.3:c.3595G>T	XP_011509083.1:p.Glu1199Ter
XM_011510782.3:c.3613G>T	XP_011509084.1:p.Glu1205Ter
XM_011510783.3:c.3445G>T	XP_011509085.1:p.Glu1149Ter
XM_011510784.2:c.3442G>T	XP_011509086.1:p.Glu1148Ter
XM_011510785.3:c.3427G>T	XP_011509087.1:p.Glu1143Ter
XM_011510786.3:c.3322G>T	XP_011509088.1:p.Glu1108Ter
XM_011510789.2:c.3136G>T	XP_011509091.1:p.Glu1046Ter
XM_011510792.3:c.3613G>T	XP_011509094.1:p.Glu1205Ter
XM_017003568.1:c.3559G>T	XP_016859057.1:p.Glu1187Ter
XM_017003569.1:c.3391G>T	XP_016859058.1:p.Glu1131Ter
XM_017003570.1:c.3118G>T	XP_016859059.1:p.Glu1040Ter
XM_017003571.1:c.2968G>T	XP_016859060.1:p.Glu990Ter
XM_017003572.1:c.2620G>T	XP_016859061.1:p.Glu874Ter
XM_017003573.1:c.2620G>T	XP_016859062.1:p.Glu874Ter
XM_017003574.1:c.2620G>T	XP_016859063.1:p.Glu874Ter
NM_015040.4:c.3577G>T MANE Select	NP_055855.2:p.Glu1193Ter