Canonical Allele Identifier: CA350115857

Gene: PIKFYVE

Linked Data

• ClinVar Variation Id: 2490707
• ClinVar RCV Id: RCV003215474
• MyVariant Identifiers: chr2:g.209191116G>A (hg19) ; chr2:g.208326392G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326392G>A , CM000664.2:g.208326392G>A	GRCh38
NC_000002.11:g.209191116G>A , CM000664.1:g.209191116G>A	GRCh37
NC_000002.10:g.208899361G>A	NCBI36
NG_021188.1:g.65126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3581G>A MANE Select	ENSP00000264380.4:p.Arg1194Lys
ENST00000264380.8:c.3581G>A	ENSP00000264380.4:p.Arg1194Lys
ENST00000452564.1:c.3413G>A	ENSP00000405736.1:p.Arg1138Lys
NM_015040.3:c.3581G>A	NP_055855.2:p.Arg1194Lys
XM_011510778.1:c.3617G>A	XP_011509080.1:p.Arg1206Lys
XM_011510779.1:c.3617G>A	XP_011509081.1:p.Arg1206Lys
XM_011510780.1:c.3614G>A	XP_011509082.1:p.Arg1205Lys
XM_011510781.1:c.3599G>A	XP_011509083.1:p.Arg1200Lys
XM_011510782.1:c.3617G>A	XP_011509084.1:p.Arg1206Lys
XM_011510783.1:c.3449G>A	XP_011509085.1:p.Arg1150Lys
XM_011510784.1:c.3446G>A	XP_011509086.1:p.Arg1149Lys
XM_011510785.1:c.3431G>A	XP_011509087.1:p.Arg1144Lys
XM_011510786.1:c.3326G>A	XP_011509088.1:p.Arg1109Lys
XM_011510787.1:c.3323G>A	XP_011509089.1:p.Arg1108Lys
XM_011510788.1:c.3290G>A	XP_011509090.1:p.Arg1097Lys
XM_011510789.1:c.3140G>A	XP_011509091.1:p.Arg1047Lys
XM_011510790.1:c.2624G>A	XP_011509092.1:p.Arg875Lys
XM_011510791.1:c.2624G>A	XP_011509093.1:p.Arg875Lys
XM_011510792.1:c.3617G>A	XP_011509094.1:p.Arg1206Lys
XR_922888.1:n.3754G>A
XM_011510778.3:c.3617G>A	XP_011509080.1:p.Arg1206Lys
XM_011510779.2:c.3617G>A	XP_011509081.1:p.Arg1206Lys
XM_011510780.2:c.3614G>A	XP_011509082.1:p.Arg1205Lys
XM_011510781.3:c.3599G>A	XP_011509083.1:p.Arg1200Lys
XM_011510782.3:c.3617G>A	XP_011509084.1:p.Arg1206Lys
XM_011510783.3:c.3449G>A	XP_011509085.1:p.Arg1150Lys
XM_011510784.2:c.3446G>A	XP_011509086.1:p.Arg1149Lys
XM_011510785.3:c.3431G>A	XP_011509087.1:p.Arg1144Lys
XM_011510786.3:c.3326G>A	XP_011509088.1:p.Arg1109Lys
XM_011510789.2:c.3140G>A	XP_011509091.1:p.Arg1047Lys
XM_011510792.3:c.3617G>A	XP_011509094.1:p.Arg1206Lys
XM_017003568.1:c.3563G>A	XP_016859057.1:p.Arg1188Lys
XM_017003569.1:c.3395G>A	XP_016859058.1:p.Arg1132Lys
XM_017003570.1:c.3122G>A	XP_016859059.1:p.Arg1041Lys
XM_017003571.1:c.2972G>A	XP_016859060.1:p.Arg991Lys
XM_017003572.1:c.2624G>A	XP_016859061.1:p.Arg875Lys
XM_017003573.1:c.2624G>A	XP_016859062.1:p.Arg875Lys
XM_017003574.1:c.2624G>A	XP_016859063.1:p.Arg875Lys
NM_015040.4:c.3581G>A MANE Select	NP_055855.2:p.Arg1194Lys