Canonical Allele Identifier: CA350115499

Gene: PIKFYVE

Linked Data

• COSMIC: COSM5665928
• MyVariant Identifiers: chr2:g.209190954A>T (hg19) ; chr2:g.208326230A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326230A>T , CM000664.2:g.208326230A>T	GRCh38
NC_000002.11:g.209190954A>T , CM000664.1:g.209190954A>T	GRCh37
NC_000002.10:g.208899199A>T	NCBI36
NG_021188.1:g.64964A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3419A>T MANE Select	ENSP00000264380.4:p.Glu1140Val
ENST00000264380.8:c.3419A>T	ENSP00000264380.4:p.Glu1140Val
ENST00000452564.1:c.3251A>T	ENSP00000405736.1:p.Glu1084Val
NM_015040.3:c.3419A>T	NP_055855.2:p.Glu1140Val
XM_011510778.1:c.3455A>T	XP_011509080.1:p.Glu1152Val
XM_011510779.1:c.3455A>T	XP_011509081.1:p.Glu1152Val
XM_011510780.1:c.3452A>T	XP_011509082.1:p.Glu1151Val
XM_011510781.1:c.3437A>T	XP_011509083.1:p.Glu1146Val
XM_011510782.1:c.3455A>T	XP_011509084.1:p.Glu1152Val
XM_011510783.1:c.3287A>T	XP_011509085.1:p.Glu1096Val
XM_011510784.1:c.3284A>T	XP_011509086.1:p.Glu1095Val
XM_011510785.1:c.3269A>T	XP_011509087.1:p.Glu1090Val
XM_011510786.1:c.3164A>T	XP_011509088.1:p.Glu1055Val
XM_011510787.1:c.3161A>T	XP_011509089.1:p.Glu1054Val
XM_011510788.1:c.3128A>T	XP_011509090.1:p.Glu1043Val
XM_011510789.1:c.2978A>T	XP_011509091.1:p.Glu993Val
XM_011510790.1:c.2462A>T	XP_011509092.1:p.Glu821Val
XM_011510791.1:c.2462A>T	XP_011509093.1:p.Glu821Val
XM_011510792.1:c.3455A>T	XP_011509094.1:p.Glu1152Val
XR_922888.1:n.3592A>T
XM_011510778.3:c.3455A>T	XP_011509080.1:p.Glu1152Val
XM_011510779.2:c.3455A>T	XP_011509081.1:p.Glu1152Val
XM_011510780.2:c.3452A>T	XP_011509082.1:p.Glu1151Val
XM_011510781.3:c.3437A>T	XP_011509083.1:p.Glu1146Val
XM_011510782.3:c.3455A>T	XP_011509084.1:p.Glu1152Val
XM_011510783.3:c.3287A>T	XP_011509085.1:p.Glu1096Val
XM_011510784.2:c.3284A>T	XP_011509086.1:p.Glu1095Val
XM_011510785.3:c.3269A>T	XP_011509087.1:p.Glu1090Val
XM_011510786.3:c.3164A>T	XP_011509088.1:p.Glu1055Val
XM_011510789.2:c.2978A>T	XP_011509091.1:p.Glu993Val
XM_011510792.3:c.3455A>T	XP_011509094.1:p.Glu1152Val
XM_017003568.1:c.3401A>T	XP_016859057.1:p.Glu1134Val
XM_017003569.1:c.3233A>T	XP_016859058.1:p.Glu1078Val
XM_017003570.1:c.2960A>T	XP_016859059.1:p.Glu987Val
XM_017003571.1:c.2810A>T	XP_016859060.1:p.Glu937Val
XM_017003572.1:c.2462A>T	XP_016859061.1:p.Glu821Val
XM_017003573.1:c.2462A>T	XP_016859062.1:p.Glu821Val
XM_017003574.1:c.2462A>T	XP_016859063.1:p.Glu821Val
NM_015040.4:c.3419A>T MANE Select	NP_055855.2:p.Glu1140Val