Canonical Allele Identifier: CA350115526

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190967T>A (hg19) ; chr2:g.208326243T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326243T>A , CM000664.2:g.208326243T>A	GRCh38
NC_000002.11:g.209190967T>A , CM000664.1:g.209190967T>A	GRCh37
NC_000002.10:g.208899212T>A	NCBI36
NG_021188.1:g.64977T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3432T>A MANE Select	ENSP00000264380.4:p.Asp1144Glu
ENST00000264380.8:c.3432T>A	ENSP00000264380.4:p.Asp1144Glu
ENST00000452564.1:c.3264T>A	ENSP00000405736.1:p.Asp1088Glu
NM_015040.3:c.3432T>A	NP_055855.2:p.Asp1144Glu
XM_011510778.1:c.3468T>A	XP_011509080.1:p.Asp1156Glu
XM_011510779.1:c.3468T>A	XP_011509081.1:p.Asp1156Glu
XM_011510780.1:c.3465T>A	XP_011509082.1:p.Asp1155Glu
XM_011510781.1:c.3450T>A	XP_011509083.1:p.Asp1150Glu
XM_011510782.1:c.3468T>A	XP_011509084.1:p.Asp1156Glu
XM_011510783.1:c.3300T>A	XP_011509085.1:p.Asp1100Glu
XM_011510784.1:c.3297T>A	XP_011509086.1:p.Asp1099Glu
XM_011510785.1:c.3282T>A	XP_011509087.1:p.Asp1094Glu
XM_011510786.1:c.3177T>A	XP_011509088.1:p.Asp1059Glu
XM_011510787.1:c.3174T>A	XP_011509089.1:p.Asp1058Glu
XM_011510788.1:c.3141T>A	XP_011509090.1:p.Asp1047Glu
XM_011510789.1:c.2991T>A	XP_011509091.1:p.Asp997Glu
XM_011510790.1:c.2475T>A	XP_011509092.1:p.Asp825Glu
XM_011510791.1:c.2475T>A	XP_011509093.1:p.Asp825Glu
XM_011510792.1:c.3468T>A	XP_011509094.1:p.Asp1156Glu
XR_922888.1:n.3605T>A
XM_011510778.3:c.3468T>A	XP_011509080.1:p.Asp1156Glu
XM_011510779.2:c.3468T>A	XP_011509081.1:p.Asp1156Glu
XM_011510780.2:c.3465T>A	XP_011509082.1:p.Asp1155Glu
XM_011510781.3:c.3450T>A	XP_011509083.1:p.Asp1150Glu
XM_011510782.3:c.3468T>A	XP_011509084.1:p.Asp1156Glu
XM_011510783.3:c.3300T>A	XP_011509085.1:p.Asp1100Glu
XM_011510784.2:c.3297T>A	XP_011509086.1:p.Asp1099Glu
XM_011510785.3:c.3282T>A	XP_011509087.1:p.Asp1094Glu
XM_011510786.3:c.3177T>A	XP_011509088.1:p.Asp1059Glu
XM_011510789.2:c.2991T>A	XP_011509091.1:p.Asp997Glu
XM_011510792.3:c.3468T>A	XP_011509094.1:p.Asp1156Glu
XM_017003568.1:c.3414T>A	XP_016859057.1:p.Asp1138Glu
XM_017003569.1:c.3246T>A	XP_016859058.1:p.Asp1082Glu
XM_017003570.1:c.2973T>A	XP_016859059.1:p.Asp991Glu
XM_017003571.1:c.2823T>A	XP_016859060.1:p.Asp941Glu
XM_017003572.1:c.2475T>A	XP_016859061.1:p.Asp825Glu
XM_017003573.1:c.2475T>A	XP_016859062.1:p.Asp825Glu
XM_017003574.1:c.2475T>A	XP_016859063.1:p.Asp825Glu
NM_015040.4:c.3432T>A MANE Select	NP_055855.2:p.Asp1144Glu