Canonical Allele Identifier: CA350115520

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs1282295274
• gnomAD v2: 2-209190963-G-T
• gnomAD v4: 2-208326239-G-T
• MyVariant Identifiers: chr2:g.209190963G>T (hg19) ; chr2:g.208326239G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326239G>T , CM000664.2:g.208326239G>T	GRCh38
NC_000002.11:g.209190963G>T , CM000664.1:g.209190963G>T	GRCh37
NC_000002.10:g.208899208G>T	NCBI36
NG_021188.1:g.64973G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3428G>T MANE Select	ENSP00000264380.4:p.Gly1143Val
ENST00000264380.8:c.3428G>T	ENSP00000264380.4:p.Gly1143Val
ENST00000452564.1:c.3260G>T	ENSP00000405736.1:p.Gly1087Val
NM_015040.3:c.3428G>T	NP_055855.2:p.Gly1143Val
XM_011510778.1:c.3464G>T	XP_011509080.1:p.Gly1155Val
XM_011510779.1:c.3464G>T	XP_011509081.1:p.Gly1155Val
XM_011510780.1:c.3461G>T	XP_011509082.1:p.Gly1154Val
XM_011510781.1:c.3446G>T	XP_011509083.1:p.Gly1149Val
XM_011510782.1:c.3464G>T	XP_011509084.1:p.Gly1155Val
XM_011510783.1:c.3296G>T	XP_011509085.1:p.Gly1099Val
XM_011510784.1:c.3293G>T	XP_011509086.1:p.Gly1098Val
XM_011510785.1:c.3278G>T	XP_011509087.1:p.Gly1093Val
XM_011510786.1:c.3173G>T	XP_011509088.1:p.Gly1058Val
XM_011510787.1:c.3170G>T	XP_011509089.1:p.Gly1057Val
XM_011510788.1:c.3137G>T	XP_011509090.1:p.Gly1046Val
XM_011510789.1:c.2987G>T	XP_011509091.1:p.Gly996Val
XM_011510790.1:c.2471G>T	XP_011509092.1:p.Gly824Val
XM_011510791.1:c.2471G>T	XP_011509093.1:p.Gly824Val
XM_011510792.1:c.3464G>T	XP_011509094.1:p.Gly1155Val
XR_922888.1:n.3601G>T
XM_011510778.3:c.3464G>T	XP_011509080.1:p.Gly1155Val
XM_011510779.2:c.3464G>T	XP_011509081.1:p.Gly1155Val
XM_011510780.2:c.3461G>T	XP_011509082.1:p.Gly1154Val
XM_011510781.3:c.3446G>T	XP_011509083.1:p.Gly1149Val
XM_011510782.3:c.3464G>T	XP_011509084.1:p.Gly1155Val
XM_011510783.3:c.3296G>T	XP_011509085.1:p.Gly1099Val
XM_011510784.2:c.3293G>T	XP_011509086.1:p.Gly1098Val
XM_011510785.3:c.3278G>T	XP_011509087.1:p.Gly1093Val
XM_011510786.3:c.3173G>T	XP_011509088.1:p.Gly1058Val
XM_011510789.2:c.2987G>T	XP_011509091.1:p.Gly996Val
XM_011510792.3:c.3464G>T	XP_011509094.1:p.Gly1155Val
XM_017003568.1:c.3410G>T	XP_016859057.1:p.Gly1137Val
XM_017003569.1:c.3242G>T	XP_016859058.1:p.Gly1081Val
XM_017003570.1:c.2969G>T	XP_016859059.1:p.Gly990Val
XM_017003571.1:c.2819G>T	XP_016859060.1:p.Gly940Val
XM_017003572.1:c.2471G>T	XP_016859061.1:p.Gly824Val
XM_017003573.1:c.2471G>T	XP_016859062.1:p.Gly824Val
XM_017003574.1:c.2471G>T	XP_016859063.1:p.Gly824Val
NM_015040.4:c.3428G>T MANE Select	NP_055855.2:p.Gly1143Val