Canonical Allele Identifier: CA350115537

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190971C>A (hg19) ; chr2:g.208326247C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326247C>A , CM000664.2:g.208326247C>A	GRCh38
NC_000002.11:g.209190971C>A , CM000664.1:g.209190971C>A	GRCh37
NC_000002.10:g.208899216C>A	NCBI36
NG_021188.1:g.64981C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3436C>A MANE Select	ENSP00000264380.4:p.Gln1146Lys
ENST00000264380.8:c.3436C>A	ENSP00000264380.4:p.Gln1146Lys
ENST00000452564.1:c.3268C>A	ENSP00000405736.1:p.Gln1090Lys
NM_015040.3:c.3436C>A	NP_055855.2:p.Gln1146Lys
XM_011510778.1:c.3472C>A	XP_011509080.1:p.Gln1158Lys
XM_011510779.1:c.3472C>A	XP_011509081.1:p.Gln1158Lys
XM_011510780.1:c.3469C>A	XP_011509082.1:p.Gln1157Lys
XM_011510781.1:c.3454C>A	XP_011509083.1:p.Gln1152Lys
XM_011510782.1:c.3472C>A	XP_011509084.1:p.Gln1158Lys
XM_011510783.1:c.3304C>A	XP_011509085.1:p.Gln1102Lys
XM_011510784.1:c.3301C>A	XP_011509086.1:p.Gln1101Lys
XM_011510785.1:c.3286C>A	XP_011509087.1:p.Gln1096Lys
XM_011510786.1:c.3181C>A	XP_011509088.1:p.Gln1061Lys
XM_011510787.1:c.3178C>A	XP_011509089.1:p.Gln1060Lys
XM_011510788.1:c.3145C>A	XP_011509090.1:p.Gln1049Lys
XM_011510789.1:c.2995C>A	XP_011509091.1:p.Gln999Lys
XM_011510790.1:c.2479C>A	XP_011509092.1:p.Gln827Lys
XM_011510791.1:c.2479C>A	XP_011509093.1:p.Gln827Lys
XM_011510792.1:c.3472C>A	XP_011509094.1:p.Gln1158Lys
XR_922888.1:n.3609C>A
XM_011510778.3:c.3472C>A	XP_011509080.1:p.Gln1158Lys
XM_011510779.2:c.3472C>A	XP_011509081.1:p.Gln1158Lys
XM_011510780.2:c.3469C>A	XP_011509082.1:p.Gln1157Lys
XM_011510781.3:c.3454C>A	XP_011509083.1:p.Gln1152Lys
XM_011510782.3:c.3472C>A	XP_011509084.1:p.Gln1158Lys
XM_011510783.3:c.3304C>A	XP_011509085.1:p.Gln1102Lys
XM_011510784.2:c.3301C>A	XP_011509086.1:p.Gln1101Lys
XM_011510785.3:c.3286C>A	XP_011509087.1:p.Gln1096Lys
XM_011510786.3:c.3181C>A	XP_011509088.1:p.Gln1061Lys
XM_011510789.2:c.2995C>A	XP_011509091.1:p.Gln999Lys
XM_011510792.3:c.3472C>A	XP_011509094.1:p.Gln1158Lys
XM_017003568.1:c.3418C>A	XP_016859057.1:p.Gln1140Lys
XM_017003569.1:c.3250C>A	XP_016859058.1:p.Gln1084Lys
XM_017003570.1:c.2977C>A	XP_016859059.1:p.Gln993Lys
XM_017003571.1:c.2827C>A	XP_016859060.1:p.Gln943Lys
XM_017003572.1:c.2479C>A	XP_016859061.1:p.Gln827Lys
XM_017003573.1:c.2479C>A	XP_016859062.1:p.Gln827Lys
XM_017003574.1:c.2479C>A	XP_016859063.1:p.Gln827Lys
NM_015040.4:c.3436C>A MANE Select	NP_055855.2:p.Gln1146Lys