Canonical Allele Identifier: CA2079458

Gene: PIKFYVE

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208301026G>A , CM000664.2:g.208301026G>A	GRCh38
NC_000002.11:g.209165750G>A , CM000664.1:g.209165750G>A	GRCh37
NC_000002.10:g.208873995G>A	NCBI36
NG_021188.1:g.39760G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015040.4:c.1140G>A MANE Select	NP_055855.2:p.Thr380=
ENST00000264380.9:c.1140G>A MANE Select	ENSP00000264380.4:p.Thr380=
NM_001178000.1:c.1140G>A	NP_001171471.1:p.Thr380=
NM_001178000.2:c.1140G>A	NP_001171471.1:p.Thr380=
NM_015040.3:c.1140G>A	NP_055855.2:p.Thr380=
NM_152671.3:c.849G>A	NP_689884.1:p.Thr283=
NM_152671.4:c.849G>A	NP_689884.1:p.Thr283=
ENST00000264380.8:c.1140G>A	ENSP00000264380.4:p.Thr380=
ENST00000308862.10:c.882G>A	ENSP00000308715.6:p.Thr294=
ENST00000392202.7:c.849G>A	ENSP00000376038.3:p.Thr283=
ENST00000407449.5:c.1140G>A	ENSP00000384356.1:p.Thr380=
ENST00000443896.5:c.*491G>A	ENSP00000407692.1:n.*491G>A
ENST00000452564.1:c.1140G>A	ENSP00000405736.1:p.Thr380=
ENST00000477200.1:n.229G>A
XM_011510778.1:c.1176G>A	XP_011509080.1:p.Thr392=
XM_011510778.3:c.1176G>A	XP_011509080.1:p.Thr392=
XM_011510779.1:c.1176G>A	XP_011509081.1:p.Thr392=
XM_011510779.2:c.1176G>A	XP_011509081.1:p.Thr392=
XM_011510780.1:c.1173G>A	XP_011509082.1:p.Thr391=
XM_011510780.2:c.1173G>A	XP_011509082.1:p.Thr391=
XM_011510781.1:c.1176G>A	XP_011509083.1:p.Thr392=
XM_011510781.3:c.1176G>A	XP_011509083.1:p.Thr392=
XM_011510782.1:c.1176G>A	XP_011509084.1:p.Thr392=
XM_011510782.3:c.1176G>A	XP_011509084.1:p.Thr392=
XM_011510783.1:c.1176G>A	XP_011509085.1:p.Thr392=
XM_011510783.3:c.1176G>A	XP_011509085.1:p.Thr392=
XM_011510784.1:c.1173G>A	XP_011509086.1:p.Thr391=
XM_011510784.2:c.1173G>A	XP_011509086.1:p.Thr391=
XM_011510785.1:c.1176G>A	XP_011509087.1:p.Thr392=
XM_011510785.3:c.1176G>A	XP_011509087.1:p.Thr392=
XM_011510786.1:c.885G>A	XP_011509088.1:p.Thr295=
XM_011510786.3:c.885G>A	XP_011509088.1:p.Thr295=
XM_011510787.1:c.882G>A	XP_011509089.1:p.Thr294=
XM_011510788.1:c.849G>A	XP_011509090.1:p.Thr283=
XM_011510789.1:c.699G>A	XP_011509091.1:p.Thr233=
XM_011510789.2:c.699G>A	XP_011509091.1:p.Thr233=
XM_011510790.1:c.183G>A	XP_011509092.1:p.Thr61=
XM_011510791.1:c.183G>A	XP_011509093.1:p.Thr61=
XM_011510792.1:c.1176G>A	XP_011509094.1:p.Thr392=
XM_011510792.3:c.1176G>A	XP_011509094.1:p.Thr392=
XM_017003568.1:c.1140G>A	XP_016859057.1:p.Thr380=
XM_017003569.1:c.1140G>A	XP_016859058.1:p.Thr380=
XM_017003570.1:c.849G>A	XP_016859059.1:p.Thr283=
XM_017003571.1:c.699G>A	XP_016859060.1:p.Thr233=
XM_017003572.1:c.183G>A	XP_016859061.1:p.Thr61=
XM_017003573.1:c.183G>A	XP_016859062.1:p.Thr61=
XM_017003574.1:c.183G>A	XP_016859063.1:p.Thr61=
XR_922888.1:n.1313G>A