Canonical Allele Identifier: CA2080041

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs751050961
• ExAC: 2:209191010 G / A
• gnomAD v2: 2-209191010-G-A
• gnomAD v4: 2-208326286-G-A
• MyVariant Identifiers: chr2:g.209191010G>A (hg19) ; chr2:g.208326286G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326286G>A , CM000664.2:g.208326286G>A	GRCh38
NC_000002.11:g.209191010G>A , CM000664.1:g.209191010G>A	GRCh37
NC_000002.10:g.208899255G>A	NCBI36
NG_021188.1:g.65020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3475G>A MANE Select	ENSP00000264380.4:p.Gly1159Arg
ENST00000264380.8:c.3475G>A	ENSP00000264380.4:p.Gly1159Arg
ENST00000452564.1:c.3307G>A	ENSP00000405736.1:p.Gly1103Arg
NM_015040.3:c.3475G>A	NP_055855.2:p.Gly1159Arg
XM_011510778.1:c.3511G>A	XP_011509080.1:p.Gly1171Arg
XM_011510779.1:c.3511G>A	XP_011509081.1:p.Gly1171Arg
XM_011510780.1:c.3508G>A	XP_011509082.1:p.Gly1170Arg
XM_011510781.1:c.3493G>A	XP_011509083.1:p.Gly1165Arg
XM_011510782.1:c.3511G>A	XP_011509084.1:p.Gly1171Arg
XM_011510783.1:c.3343G>A	XP_011509085.1:p.Gly1115Arg
XM_011510784.1:c.3340G>A	XP_011509086.1:p.Gly1114Arg
XM_011510785.1:c.3325G>A	XP_011509087.1:p.Gly1109Arg
XM_011510786.1:c.3220G>A	XP_011509088.1:p.Gly1074Arg
XM_011510787.1:c.3217G>A	XP_011509089.1:p.Gly1073Arg
XM_011510788.1:c.3184G>A	XP_011509090.1:p.Gly1062Arg
XM_011510789.1:c.3034G>A	XP_011509091.1:p.Gly1012Arg
XM_011510790.1:c.2518G>A	XP_011509092.1:p.Gly840Arg
XM_011510791.1:c.2518G>A	XP_011509093.1:p.Gly840Arg
XM_011510792.1:c.3511G>A	XP_011509094.1:p.Gly1171Arg
XR_922888.1:n.3648G>A
XM_011510778.3:c.3511G>A	XP_011509080.1:p.Gly1171Arg
XM_011510779.2:c.3511G>A	XP_011509081.1:p.Gly1171Arg
XM_011510780.2:c.3508G>A	XP_011509082.1:p.Gly1170Arg
XM_011510781.3:c.3493G>A	XP_011509083.1:p.Gly1165Arg
XM_011510782.3:c.3511G>A	XP_011509084.1:p.Gly1171Arg
XM_011510783.3:c.3343G>A	XP_011509085.1:p.Gly1115Arg
XM_011510784.2:c.3340G>A	XP_011509086.1:p.Gly1114Arg
XM_011510785.3:c.3325G>A	XP_011509087.1:p.Gly1109Arg
XM_011510786.3:c.3220G>A	XP_011509088.1:p.Gly1074Arg
XM_011510789.2:c.3034G>A	XP_011509091.1:p.Gly1012Arg
XM_011510792.3:c.3511G>A	XP_011509094.1:p.Gly1171Arg
XM_017003568.1:c.3457G>A	XP_016859057.1:p.Gly1153Arg
XM_017003569.1:c.3289G>A	XP_016859058.1:p.Gly1097Arg
XM_017003570.1:c.3016G>A	XP_016859059.1:p.Gly1006Arg
XM_017003571.1:c.2866G>A	XP_016859060.1:p.Gly956Arg
XM_017003572.1:c.2518G>A	XP_016859061.1:p.Gly840Arg
XM_017003573.1:c.2518G>A	XP_016859062.1:p.Gly840Arg
XM_017003574.1:c.2518G>A	XP_016859063.1:p.Gly840Arg
NM_015040.4:c.3475G>A MANE Select	NP_055855.2:p.Gly1159Arg