Canonical Allele Identifier: CA431117056

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs780885080
• gnomAD v2: 2-209191024-G-A
• gnomAD v4: 2-208326300-G-A
• MyVariant Identifiers: chr2:g.209191024G>A (hg19) ; chr2:g.208326300G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326300G>A , CM000664.2:g.208326300G>A	GRCh38
NC_000002.11:g.209191024G>A , CM000664.1:g.209191024G>A	GRCh37
NC_000002.10:g.208899269G>A	NCBI36
NG_021188.1:g.65034G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3489G>A MANE Select	ENSP00000264380.4:p.Gln1163=
ENST00000264380.8:c.3489G>A	ENSP00000264380.4:p.Gln1163=
ENST00000452564.1:c.3321G>A	ENSP00000405736.1:p.Gln1107=
NM_015040.3:c.3489G>A	NP_055855.2:p.Gln1163=
XM_011510778.1:c.3525G>A	XP_011509080.1:p.Gln1175=
XM_011510779.1:c.3525G>A	XP_011509081.1:p.Gln1175=
XM_011510780.1:c.3522G>A	XP_011509082.1:p.Gln1174=
XM_011510781.1:c.3507G>A	XP_011509083.1:p.Gln1169=
XM_011510782.1:c.3525G>A	XP_011509084.1:p.Gln1175=
XM_011510783.1:c.3357G>A	XP_011509085.1:p.Gln1119=
XM_011510784.1:c.3354G>A	XP_011509086.1:p.Gln1118=
XM_011510785.1:c.3339G>A	XP_011509087.1:p.Gln1113=
XM_011510786.1:c.3234G>A	XP_011509088.1:p.Gln1078=
XM_011510787.1:c.3231G>A	XP_011509089.1:p.Gln1077=
XM_011510788.1:c.3198G>A	XP_011509090.1:p.Gln1066=
XM_011510789.1:c.3048G>A	XP_011509091.1:p.Gln1016=
XM_011510790.1:c.2532G>A	XP_011509092.1:p.Gln844=
XM_011510791.1:c.2532G>A	XP_011509093.1:p.Gln844=
XM_011510792.1:c.3525G>A	XP_011509094.1:p.Gln1175=
XR_922888.1:n.3662G>A
XM_011510778.3:c.3525G>A	XP_011509080.1:p.Gln1175=
XM_011510779.2:c.3525G>A	XP_011509081.1:p.Gln1175=
XM_011510780.2:c.3522G>A	XP_011509082.1:p.Gln1174=
XM_011510781.3:c.3507G>A	XP_011509083.1:p.Gln1169=
XM_011510782.3:c.3525G>A	XP_011509084.1:p.Gln1175=
XM_011510783.3:c.3357G>A	XP_011509085.1:p.Gln1119=
XM_011510784.2:c.3354G>A	XP_011509086.1:p.Gln1118=
XM_011510785.3:c.3339G>A	XP_011509087.1:p.Gln1113=
XM_011510786.3:c.3234G>A	XP_011509088.1:p.Gln1078=
XM_011510789.2:c.3048G>A	XP_011509091.1:p.Gln1016=
XM_011510792.3:c.3525G>A	XP_011509094.1:p.Gln1175=
XM_017003568.1:c.3471G>A	XP_016859057.1:p.Gln1157=
XM_017003569.1:c.3303G>A	XP_016859058.1:p.Gln1101=
XM_017003570.1:c.3030G>A	XP_016859059.1:p.Gln1010=
XM_017003571.1:c.2880G>A	XP_016859060.1:p.Gln960=
XM_017003572.1:c.2532G>A	XP_016859061.1:p.Gln844=
XM_017003573.1:c.2532G>A	XP_016859062.1:p.Gln844=
XM_017003574.1:c.2532G>A	XP_016859063.1:p.Gln844=
NM_015040.4:c.3489G>A MANE Select	NP_055855.2:p.Gln1163=