Canonical Allele Identifier: CA350115496

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326229-G-C
• MyVariant Identifiers: chr2:g.209190953G>C (hg19) ; chr2:g.208326229G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326229G>C , CM000664.2:g.208326229G>C	GRCh38
NC_000002.11:g.209190953G>C , CM000664.1:g.209190953G>C	GRCh37
NC_000002.10:g.208899198G>C	NCBI36
NG_021188.1:g.64963G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3418G>C MANE Select	ENSP00000264380.4:p.Glu1140Gln
ENST00000264380.8:c.3418G>C	ENSP00000264380.4:p.Glu1140Gln
ENST00000452564.1:c.3250G>C	ENSP00000405736.1:p.Glu1084Gln
NM_015040.3:c.3418G>C	NP_055855.2:p.Glu1140Gln
XM_011510778.1:c.3454G>C	XP_011509080.1:p.Glu1152Gln
XM_011510779.1:c.3454G>C	XP_011509081.1:p.Glu1152Gln
XM_011510780.1:c.3451G>C	XP_011509082.1:p.Glu1151Gln
XM_011510781.1:c.3436G>C	XP_011509083.1:p.Glu1146Gln
XM_011510782.1:c.3454G>C	XP_011509084.1:p.Glu1152Gln
XM_011510783.1:c.3286G>C	XP_011509085.1:p.Glu1096Gln
XM_011510784.1:c.3283G>C	XP_011509086.1:p.Glu1095Gln
XM_011510785.1:c.3268G>C	XP_011509087.1:p.Glu1090Gln
XM_011510786.1:c.3163G>C	XP_011509088.1:p.Glu1055Gln
XM_011510787.1:c.3160G>C	XP_011509089.1:p.Glu1054Gln
XM_011510788.1:c.3127G>C	XP_011509090.1:p.Glu1043Gln
XM_011510789.1:c.2977G>C	XP_011509091.1:p.Glu993Gln
XM_011510790.1:c.2461G>C	XP_011509092.1:p.Glu821Gln
XM_011510791.1:c.2461G>C	XP_011509093.1:p.Glu821Gln
XM_011510792.1:c.3454G>C	XP_011509094.1:p.Glu1152Gln
XR_922888.1:n.3591G>C
XM_011510778.3:c.3454G>C	XP_011509080.1:p.Glu1152Gln
XM_011510779.2:c.3454G>C	XP_011509081.1:p.Glu1152Gln
XM_011510780.2:c.3451G>C	XP_011509082.1:p.Glu1151Gln
XM_011510781.3:c.3436G>C	XP_011509083.1:p.Glu1146Gln
XM_011510782.3:c.3454G>C	XP_011509084.1:p.Glu1152Gln
XM_011510783.3:c.3286G>C	XP_011509085.1:p.Glu1096Gln
XM_011510784.2:c.3283G>C	XP_011509086.1:p.Glu1095Gln
XM_011510785.3:c.3268G>C	XP_011509087.1:p.Glu1090Gln
XM_011510786.3:c.3163G>C	XP_011509088.1:p.Glu1055Gln
XM_011510789.2:c.2977G>C	XP_011509091.1:p.Glu993Gln
XM_011510792.3:c.3454G>C	XP_011509094.1:p.Glu1152Gln
XM_017003568.1:c.3400G>C	XP_016859057.1:p.Glu1134Gln
XM_017003569.1:c.3232G>C	XP_016859058.1:p.Glu1078Gln
XM_017003570.1:c.2959G>C	XP_016859059.1:p.Glu987Gln
XM_017003571.1:c.2809G>C	XP_016859060.1:p.Glu937Gln
XM_017003572.1:c.2461G>C	XP_016859061.1:p.Glu821Gln
XM_017003573.1:c.2461G>C	XP_016859062.1:p.Glu821Gln
XM_017003574.1:c.2461G>C	XP_016859063.1:p.Glu821Gln
NM_015040.4:c.3418G>C MANE Select	NP_055855.2:p.Glu1140Gln