Canonical Allele Identifier: CA350115493

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190951C>G (hg19) ; chr2:g.208326227C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326227C>G , CM000664.2:g.208326227C>G	GRCh38
NC_000002.11:g.209190951C>G , CM000664.1:g.209190951C>G	GRCh37
NC_000002.10:g.208899196C>G	NCBI36
NG_021188.1:g.64961C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3416C>G MANE Select	ENSP00000264380.4:p.Ala1139Gly
ENST00000264380.8:c.3416C>G	ENSP00000264380.4:p.Ala1139Gly
ENST00000452564.1:c.3248C>G	ENSP00000405736.1:p.Ala1083Gly
NM_015040.3:c.3416C>G	NP_055855.2:p.Ala1139Gly
XM_011510778.1:c.3452C>G	XP_011509080.1:p.Ala1151Gly
XM_011510779.1:c.3452C>G	XP_011509081.1:p.Ala1151Gly
XM_011510780.1:c.3449C>G	XP_011509082.1:p.Ala1150Gly
XM_011510781.1:c.3434C>G	XP_011509083.1:p.Ala1145Gly
XM_011510782.1:c.3452C>G	XP_011509084.1:p.Ala1151Gly
XM_011510783.1:c.3284C>G	XP_011509085.1:p.Ala1095Gly
XM_011510784.1:c.3281C>G	XP_011509086.1:p.Ala1094Gly
XM_011510785.1:c.3266C>G	XP_011509087.1:p.Ala1089Gly
XM_011510786.1:c.3161C>G	XP_011509088.1:p.Ala1054Gly
XM_011510787.1:c.3158C>G	XP_011509089.1:p.Ala1053Gly
XM_011510788.1:c.3125C>G	XP_011509090.1:p.Ala1042Gly
XM_011510789.1:c.2975C>G	XP_011509091.1:p.Ala992Gly
XM_011510790.1:c.2459C>G	XP_011509092.1:p.Ala820Gly
XM_011510791.1:c.2459C>G	XP_011509093.1:p.Ala820Gly
XM_011510792.1:c.3452C>G	XP_011509094.1:p.Ala1151Gly
XR_922888.1:n.3589C>G
XM_011510778.3:c.3452C>G	XP_011509080.1:p.Ala1151Gly
XM_011510779.2:c.3452C>G	XP_011509081.1:p.Ala1151Gly
XM_011510780.2:c.3449C>G	XP_011509082.1:p.Ala1150Gly
XM_011510781.3:c.3434C>G	XP_011509083.1:p.Ala1145Gly
XM_011510782.3:c.3452C>G	XP_011509084.1:p.Ala1151Gly
XM_011510783.3:c.3284C>G	XP_011509085.1:p.Ala1095Gly
XM_011510784.2:c.3281C>G	XP_011509086.1:p.Ala1094Gly
XM_011510785.3:c.3266C>G	XP_011509087.1:p.Ala1089Gly
XM_011510786.3:c.3161C>G	XP_011509088.1:p.Ala1054Gly
XM_011510789.2:c.2975C>G	XP_011509091.1:p.Ala992Gly
XM_011510792.3:c.3452C>G	XP_011509094.1:p.Ala1151Gly
XM_017003568.1:c.3398C>G	XP_016859057.1:p.Ala1133Gly
XM_017003569.1:c.3230C>G	XP_016859058.1:p.Ala1077Gly
XM_017003570.1:c.2957C>G	XP_016859059.1:p.Ala986Gly
XM_017003571.1:c.2807C>G	XP_016859060.1:p.Ala936Gly
XM_017003572.1:c.2459C>G	XP_016859061.1:p.Ala820Gly
XM_017003573.1:c.2459C>G	XP_016859062.1:p.Ala820Gly
XM_017003574.1:c.2459C>G	XP_016859063.1:p.Ala820Gly
NM_015040.4:c.3416C>G MANE Select	NP_055855.2:p.Ala1139Gly