Canonical Allele Identifier: CA1324023493

Gene: PIKFYVE

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326401T= , CM000664.2:g.208326401T=	GRCh38
NC_000002.11:g.209191125T= , CM000664.1:g.209191125T=	GRCh37
NC_000002.10:g.208899370T=	NCBI36
NG_021188.1:g.65135T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3590T= MANE Select	ENSP00000264380.4:p.Ile1197=
ENST00000264380.8:c.3590T=	ENSP00000264380.4:p.Ile1197=
ENST00000452564.1:c.3422T=	ENSP00000405736.1:p.Ile1141=
NM_015040.3:c.3590T=	NP_055855.2:p.Ile1197=
XM_011510778.1:c.3626T=	XP_011509080.1:p.Ile1209=
XM_011510779.1:c.3626T=	XP_011509081.1:p.Ile1209=
XM_011510780.1:c.3623T=	XP_011509082.1:p.Ile1208=
XM_011510781.1:c.3608T=	XP_011509083.1:p.Ile1203=
XM_011510782.1:c.3626T=	XP_011509084.1:p.Ile1209=
XM_011510783.1:c.3458T=	XP_011509085.1:p.Ile1153=
XM_011510784.1:c.3455T=	XP_011509086.1:p.Ile1152=
XM_011510785.1:c.3440T=	XP_011509087.1:p.Ile1147=
XM_011510786.1:c.3335T=	XP_011509088.1:p.Ile1112=
XM_011510787.1:c.3332T=	XP_011509089.1:p.Ile1111=
XM_011510788.1:c.3299T=	XP_011509090.1:p.Ile1100=
XM_011510789.1:c.3149T=	XP_011509091.1:p.Ile1050=
XM_011510790.1:c.2633T=	XP_011509092.1:p.Ile878=
XM_011510791.1:c.2633T=	XP_011509093.1:p.Ile878=
XM_011510792.1:c.3626T=	XP_011509094.1:p.Ile1209=
XR_922888.1:n.3763T=
XM_011510778.3:c.3626T=	XP_011509080.1:p.Ile1209=
XM_011510779.2:c.3626T=	XP_011509081.1:p.Ile1209=
XM_011510780.2:c.3623T=	XP_011509082.1:p.Ile1208=
XM_011510781.3:c.3608T=	XP_011509083.1:p.Ile1203=
XM_011510782.3:c.3626T=	XP_011509084.1:p.Ile1209=
XM_011510783.3:c.3458T=	XP_011509085.1:p.Ile1153=
XM_011510784.2:c.3455T=	XP_011509086.1:p.Ile1152=
XM_011510785.3:c.3440T=	XP_011509087.1:p.Ile1147=
XM_011510786.3:c.3335T=	XP_011509088.1:p.Ile1112=
XM_011510789.2:c.3149T=	XP_011509091.1:p.Ile1050=
XM_011510792.3:c.3626T=	XP_011509094.1:p.Ile1209=
XM_017003568.1:c.3572T=	XP_016859057.1:p.Ile1191=
XM_017003569.1:c.3404T=	XP_016859058.1:p.Ile1135=
XM_017003570.1:c.3131T=	XP_016859059.1:p.Ile1044=
XM_017003571.1:c.2981T=	XP_016859060.1:p.Ile994=
XM_017003572.1:c.2633T=	XP_016859061.1:p.Ile878=
XM_017003573.1:c.2633T=	XP_016859062.1:p.Ile878=
XM_017003574.1:c.2633T=	XP_016859063.1:p.Ile878=
NM_015040.4:c.3590T= MANE Select	NP_055855.2:p.Ile1197=