Canonical Allele Identifier: CA64596728

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs113502707
• MyVariant Identifiers: chr2:g.209191009A>G (hg19) ; chr2:g.208326285A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326285A>G , CM000664.2:g.208326285A>G	GRCh38
NC_000002.11:g.209191009A>G , CM000664.1:g.209191009A>G	GRCh37
NC_000002.10:g.208899254A>G	NCBI36
NG_021188.1:g.65019A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3474A>G MANE Select	ENSP00000264380.4:p.Arg1158=
ENST00000264380.8:c.3474A>G	ENSP00000264380.4:p.Arg1158=
ENST00000452564.1:c.3306A>G	ENSP00000405736.1:p.Arg1102=
NM_015040.3:c.3474A>G	NP_055855.2:p.Arg1158=
XM_011510778.1:c.3510A>G	XP_011509080.1:p.Arg1170=
XM_011510779.1:c.3510A>G	XP_011509081.1:p.Arg1170=
XM_011510780.1:c.3507A>G	XP_011509082.1:p.Arg1169=
XM_011510781.1:c.3492A>G	XP_011509083.1:p.Arg1164=
XM_011510782.1:c.3510A>G	XP_011509084.1:p.Arg1170=
XM_011510783.1:c.3342A>G	XP_011509085.1:p.Arg1114=
XM_011510784.1:c.3339A>G	XP_011509086.1:p.Arg1113=
XM_011510785.1:c.3324A>G	XP_011509087.1:p.Arg1108=
XM_011510786.1:c.3219A>G	XP_011509088.1:p.Arg1073=
XM_011510787.1:c.3216A>G	XP_011509089.1:p.Arg1072=
XM_011510788.1:c.3183A>G	XP_011509090.1:p.Arg1061=
XM_011510789.1:c.3033A>G	XP_011509091.1:p.Arg1011=
XM_011510790.1:c.2517A>G	XP_011509092.1:p.Arg839=
XM_011510791.1:c.2517A>G	XP_011509093.1:p.Arg839=
XM_011510792.1:c.3510A>G	XP_011509094.1:p.Arg1170=
XR_922888.1:n.3647A>G
XM_011510778.3:c.3510A>G	XP_011509080.1:p.Arg1170=
XM_011510779.2:c.3510A>G	XP_011509081.1:p.Arg1170=
XM_011510780.2:c.3507A>G	XP_011509082.1:p.Arg1169=
XM_011510781.3:c.3492A>G	XP_011509083.1:p.Arg1164=
XM_011510782.3:c.3510A>G	XP_011509084.1:p.Arg1170=
XM_011510783.3:c.3342A>G	XP_011509085.1:p.Arg1114=
XM_011510784.2:c.3339A>G	XP_011509086.1:p.Arg1113=
XM_011510785.3:c.3324A>G	XP_011509087.1:p.Arg1108=
XM_011510786.3:c.3219A>G	XP_011509088.1:p.Arg1073=
XM_011510789.2:c.3033A>G	XP_011509091.1:p.Arg1011=
XM_011510792.3:c.3510A>G	XP_011509094.1:p.Arg1170=
XM_017003568.1:c.3456A>G	XP_016859057.1:p.Arg1152=
XM_017003569.1:c.3288A>G	XP_016859058.1:p.Arg1096=
XM_017003570.1:c.3015A>G	XP_016859059.1:p.Arg1005=
XM_017003571.1:c.2865A>G	XP_016859060.1:p.Arg955=
XM_017003572.1:c.2517A>G	XP_016859061.1:p.Arg839=
XM_017003573.1:c.2517A>G	XP_016859062.1:p.Arg839=
XM_017003574.1:c.2517A>G	XP_016859063.1:p.Arg839=
NM_015040.4:c.3474A>G MANE Select	NP_055855.2:p.Arg1158=