Canonical Allele Identifier: CA350115606

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs1371843418
• gnomAD v2: 2-209191002-G-A
• MyVariant Identifiers: chr2:g.209191002G>A (hg19) ; chr2:g.208326278G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326278G>A , CM000664.2:g.208326278G>A	GRCh38
NC_000002.11:g.209191002G>A , CM000664.1:g.209191002G>A	GRCh37
NC_000002.10:g.208899247G>A	NCBI36
NG_021188.1:g.65012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3467G>A MANE Select	ENSP00000264380.4:p.Arg1156Gln
ENST00000264380.8:c.3467G>A	ENSP00000264380.4:p.Arg1156Gln
ENST00000452564.1:c.3299G>A	ENSP00000405736.1:p.Arg1100Gln
NM_015040.3:c.3467G>A	NP_055855.2:p.Arg1156Gln
XM_011510778.1:c.3503G>A	XP_011509080.1:p.Arg1168Gln
XM_011510779.1:c.3503G>A	XP_011509081.1:p.Arg1168Gln
XM_011510780.1:c.3500G>A	XP_011509082.1:p.Arg1167Gln
XM_011510781.1:c.3485G>A	XP_011509083.1:p.Arg1162Gln
XM_011510782.1:c.3503G>A	XP_011509084.1:p.Arg1168Gln
XM_011510783.1:c.3335G>A	XP_011509085.1:p.Arg1112Gln
XM_011510784.1:c.3332G>A	XP_011509086.1:p.Arg1111Gln
XM_011510785.1:c.3317G>A	XP_011509087.1:p.Arg1106Gln
XM_011510786.1:c.3212G>A	XP_011509088.1:p.Arg1071Gln
XM_011510787.1:c.3209G>A	XP_011509089.1:p.Arg1070Gln
XM_011510788.1:c.3176G>A	XP_011509090.1:p.Arg1059Gln
XM_011510789.1:c.3026G>A	XP_011509091.1:p.Arg1009Gln
XM_011510790.1:c.2510G>A	XP_011509092.1:p.Arg837Gln
XM_011510791.1:c.2510G>A	XP_011509093.1:p.Arg837Gln
XM_011510792.1:c.3503G>A	XP_011509094.1:p.Arg1168Gln
XR_922888.1:n.3640G>A
XM_011510778.3:c.3503G>A	XP_011509080.1:p.Arg1168Gln
XM_011510779.2:c.3503G>A	XP_011509081.1:p.Arg1168Gln
XM_011510780.2:c.3500G>A	XP_011509082.1:p.Arg1167Gln
XM_011510781.3:c.3485G>A	XP_011509083.1:p.Arg1162Gln
XM_011510782.3:c.3503G>A	XP_011509084.1:p.Arg1168Gln
XM_011510783.3:c.3335G>A	XP_011509085.1:p.Arg1112Gln
XM_011510784.2:c.3332G>A	XP_011509086.1:p.Arg1111Gln
XM_011510785.3:c.3317G>A	XP_011509087.1:p.Arg1106Gln
XM_011510786.3:c.3212G>A	XP_011509088.1:p.Arg1071Gln
XM_011510789.2:c.3026G>A	XP_011509091.1:p.Arg1009Gln
XM_011510792.3:c.3503G>A	XP_011509094.1:p.Arg1168Gln
XM_017003568.1:c.3449G>A	XP_016859057.1:p.Arg1150Gln
XM_017003569.1:c.3281G>A	XP_016859058.1:p.Arg1094Gln
XM_017003570.1:c.3008G>A	XP_016859059.1:p.Arg1003Gln
XM_017003571.1:c.2858G>A	XP_016859060.1:p.Arg953Gln
XM_017003572.1:c.2510G>A	XP_016859061.1:p.Arg837Gln
XM_017003573.1:c.2510G>A	XP_016859062.1:p.Arg837Gln
XM_017003574.1:c.2510G>A	XP_016859063.1:p.Arg837Gln
NM_015040.4:c.3467G>A MANE Select	NP_055855.2:p.Arg1156Gln