Canonical Allele Identifier: CA350115887

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326407-G-A
• MyVariant Identifiers: chr2:g.209191131G>A (hg19) ; chr2:g.208326407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326407G>A , CM000664.2:g.208326407G>A	GRCh38
NC_000002.11:g.209191131G>A , CM000664.1:g.209191131G>A	GRCh37
NC_000002.10:g.208899376G>A	NCBI36
NG_021188.1:g.65141G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3596G>A MANE Select	ENSP00000264380.4:p.Ser1199Asn
ENST00000264380.8:c.3596G>A	ENSP00000264380.4:p.Ser1199Asn
ENST00000452564.1:c.3428G>A	ENSP00000405736.1:p.Ser1143Asn
NM_015040.3:c.3596G>A	NP_055855.2:p.Ser1199Asn
XM_011510778.1:c.3632G>A	XP_011509080.1:p.Ser1211Asn
XM_011510779.1:c.3632G>A	XP_011509081.1:p.Ser1211Asn
XM_011510780.1:c.3629G>A	XP_011509082.1:p.Ser1210Asn
XM_011510781.1:c.3614G>A	XP_011509083.1:p.Ser1205Asn
XM_011510782.1:c.3632G>A	XP_011509084.1:p.Ser1211Asn
XM_011510783.1:c.3464G>A	XP_011509085.1:p.Ser1155Asn
XM_011510784.1:c.3461G>A	XP_011509086.1:p.Ser1154Asn
XM_011510785.1:c.3446G>A	XP_011509087.1:p.Ser1149Asn
XM_011510786.1:c.3341G>A	XP_011509088.1:p.Ser1114Asn
XM_011510787.1:c.3338G>A	XP_011509089.1:p.Ser1113Asn
XM_011510788.1:c.3305G>A	XP_011509090.1:p.Ser1102Asn
XM_011510789.1:c.3155G>A	XP_011509091.1:p.Ser1052Asn
XM_011510790.1:c.2639G>A	XP_011509092.1:p.Ser880Asn
XM_011510791.1:c.2639G>A	XP_011509093.1:p.Ser880Asn
XM_011510792.1:c.3632G>A	XP_011509094.1:p.Ser1211Asn
XR_922888.1:n.3769G>A
XM_011510778.3:c.3632G>A	XP_011509080.1:p.Ser1211Asn
XM_011510779.2:c.3632G>A	XP_011509081.1:p.Ser1211Asn
XM_011510780.2:c.3629G>A	XP_011509082.1:p.Ser1210Asn
XM_011510781.3:c.3614G>A	XP_011509083.1:p.Ser1205Asn
XM_011510782.3:c.3632G>A	XP_011509084.1:p.Ser1211Asn
XM_011510783.3:c.3464G>A	XP_011509085.1:p.Ser1155Asn
XM_011510784.2:c.3461G>A	XP_011509086.1:p.Ser1154Asn
XM_011510785.3:c.3446G>A	XP_011509087.1:p.Ser1149Asn
XM_011510786.3:c.3341G>A	XP_011509088.1:p.Ser1114Asn
XM_011510789.2:c.3155G>A	XP_011509091.1:p.Ser1052Asn
XM_011510792.3:c.3632G>A	XP_011509094.1:p.Ser1211Asn
XM_017003568.1:c.3578G>A	XP_016859057.1:p.Ser1193Asn
XM_017003569.1:c.3410G>A	XP_016859058.1:p.Ser1137Asn
XM_017003570.1:c.3137G>A	XP_016859059.1:p.Ser1046Asn
XM_017003571.1:c.2987G>A	XP_016859060.1:p.Ser996Asn
XM_017003572.1:c.2639G>A	XP_016859061.1:p.Ser880Asn
XM_017003573.1:c.2639G>A	XP_016859062.1:p.Ser880Asn
XM_017003574.1:c.2639G>A	XP_016859063.1:p.Ser880Asn
NM_015040.4:c.3596G>A MANE Select	NP_055855.2:p.Ser1199Asn