Canonical Allele Identifier: CA350115876

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191125T>A (hg19) ; chr2:g.208326401T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326401T>A , CM000664.2:g.208326401T>A	GRCh38
NC_000002.11:g.209191125T>A , CM000664.1:g.209191125T>A	GRCh37
NC_000002.10:g.208899370T>A	NCBI36
NG_021188.1:g.65135T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3590T>A MANE Select	ENSP00000264380.4:p.Ile1197Asn
ENST00000264380.8:c.3590T>A	ENSP00000264380.4:p.Ile1197Asn
ENST00000452564.1:c.3422T>A	ENSP00000405736.1:p.Ile1141Asn
NM_015040.3:c.3590T>A	NP_055855.2:p.Ile1197Asn
XM_011510778.1:c.3626T>A	XP_011509080.1:p.Ile1209Asn
XM_011510779.1:c.3626T>A	XP_011509081.1:p.Ile1209Asn
XM_011510780.1:c.3623T>A	XP_011509082.1:p.Ile1208Asn
XM_011510781.1:c.3608T>A	XP_011509083.1:p.Ile1203Asn
XM_011510782.1:c.3626T>A	XP_011509084.1:p.Ile1209Asn
XM_011510783.1:c.3458T>A	XP_011509085.1:p.Ile1153Asn
XM_011510784.1:c.3455T>A	XP_011509086.1:p.Ile1152Asn
XM_011510785.1:c.3440T>A	XP_011509087.1:p.Ile1147Asn
XM_011510786.1:c.3335T>A	XP_011509088.1:p.Ile1112Asn
XM_011510787.1:c.3332T>A	XP_011509089.1:p.Ile1111Asn
XM_011510788.1:c.3299T>A	XP_011509090.1:p.Ile1100Asn
XM_011510789.1:c.3149T>A	XP_011509091.1:p.Ile1050Asn
XM_011510790.1:c.2633T>A	XP_011509092.1:p.Ile878Asn
XM_011510791.1:c.2633T>A	XP_011509093.1:p.Ile878Asn
XM_011510792.1:c.3626T>A	XP_011509094.1:p.Ile1209Asn
XR_922888.1:n.3763T>A
XM_011510778.3:c.3626T>A	XP_011509080.1:p.Ile1209Asn
XM_011510779.2:c.3626T>A	XP_011509081.1:p.Ile1209Asn
XM_011510780.2:c.3623T>A	XP_011509082.1:p.Ile1208Asn
XM_011510781.3:c.3608T>A	XP_011509083.1:p.Ile1203Asn
XM_011510782.3:c.3626T>A	XP_011509084.1:p.Ile1209Asn
XM_011510783.3:c.3458T>A	XP_011509085.1:p.Ile1153Asn
XM_011510784.2:c.3455T>A	XP_011509086.1:p.Ile1152Asn
XM_011510785.3:c.3440T>A	XP_011509087.1:p.Ile1147Asn
XM_011510786.3:c.3335T>A	XP_011509088.1:p.Ile1112Asn
XM_011510789.2:c.3149T>A	XP_011509091.1:p.Ile1050Asn
XM_011510792.3:c.3626T>A	XP_011509094.1:p.Ile1209Asn
XM_017003568.1:c.3572T>A	XP_016859057.1:p.Ile1191Asn
XM_017003569.1:c.3404T>A	XP_016859058.1:p.Ile1135Asn
XM_017003570.1:c.3131T>A	XP_016859059.1:p.Ile1044Asn
XM_017003571.1:c.2981T>A	XP_016859060.1:p.Ile994Asn
XM_017003572.1:c.2633T>A	XP_016859061.1:p.Ile878Asn
XM_017003573.1:c.2633T>A	XP_016859062.1:p.Ile878Asn
XM_017003574.1:c.2633T>A	XP_016859063.1:p.Ile878Asn
NM_015040.4:c.3590T>A MANE Select	NP_055855.2:p.Ile1197Asn