Canonical Allele Identifier: CA350114306

Gene: PIKFYVE

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208325765A>G , CM000664.2:g.208325765A>G	GRCh38
NC_000002.11:g.209190489A>G , CM000664.1:g.209190489A>G	GRCh37
NC_000002.10:g.208898734A>G	NCBI36
NG_021188.1:g.64499A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015040.4:c.2954A>G MANE Select	NP_055855.2:p.Asp985Gly
ENST00000264380.9:c.2954A>G MANE Select	ENSP00000264380.4:p.Asp985Gly
NM_015040.3:c.2954A>G	NP_055855.2:p.Asp985Gly
ENST00000264380.8:c.2954A>G	ENSP00000264380.4:p.Asp985Gly
ENST00000443896.5:c.*2305A>G	ENSP00000407692.1:n.*2305A>G
ENST00000452564.1:c.2786A>G	ENSP00000405736.1:p.Asp929Gly
XM_011510778.1:c.2990A>G	XP_011509080.1:p.Asp997Gly
XM_011510778.3:c.2990A>G	XP_011509080.1:p.Asp997Gly
XM_011510779.1:c.2990A>G	XP_011509081.1:p.Asp997Gly
XM_011510779.2:c.2990A>G	XP_011509081.1:p.Asp997Gly
XM_011510780.1:c.2987A>G	XP_011509082.1:p.Asp996Gly
XM_011510780.2:c.2987A>G	XP_011509082.1:p.Asp996Gly
XM_011510781.1:c.2972A>G	XP_011509083.1:p.Asp991Gly
XM_011510781.3:c.2972A>G	XP_011509083.1:p.Asp991Gly
XM_011510782.1:c.2990A>G	XP_011509084.1:p.Asp997Gly
XM_011510782.3:c.2990A>G	XP_011509084.1:p.Asp997Gly
XM_011510783.1:c.2822A>G	XP_011509085.1:p.Asp941Gly
XM_011510783.3:c.2822A>G	XP_011509085.1:p.Asp941Gly
XM_011510784.1:c.2819A>G	XP_011509086.1:p.Asp940Gly
XM_011510784.2:c.2819A>G	XP_011509086.1:p.Asp940Gly
XM_011510785.1:c.2804A>G	XP_011509087.1:p.Asp935Gly
XM_011510785.3:c.2804A>G	XP_011509087.1:p.Asp935Gly
XM_011510786.1:c.2699A>G	XP_011509088.1:p.Asp900Gly
XM_011510786.3:c.2699A>G	XP_011509088.1:p.Asp900Gly
XM_011510787.1:c.2696A>G	XP_011509089.1:p.Asp899Gly
XM_011510788.1:c.2663A>G	XP_011509090.1:p.Asp888Gly
XM_011510789.1:c.2513A>G	XP_011509091.1:p.Asp838Gly
XM_011510789.2:c.2513A>G	XP_011509091.1:p.Asp838Gly
XM_011510790.1:c.1997A>G	XP_011509092.1:p.Asp666Gly
XM_011510791.1:c.1997A>G	XP_011509093.1:p.Asp666Gly
XM_011510792.1:c.2990A>G	XP_011509094.1:p.Asp997Gly
XM_011510792.3:c.2990A>G	XP_011509094.1:p.Asp997Gly
XM_017003568.1:c.2936A>G	XP_016859057.1:p.Asp979Gly
XM_017003569.1:c.2768A>G	XP_016859058.1:p.Asp923Gly
XM_017003570.1:c.2495A>G	XP_016859059.1:p.Asp832Gly
XM_017003571.1:c.2345A>G	XP_016859060.1:p.Asp782Gly
XM_017003572.1:c.1997A>G	XP_016859061.1:p.Asp666Gly
XM_017003573.1:c.1997A>G	XP_016859062.1:p.Asp666Gly
XM_017003574.1:c.1997A>G	XP_016859063.1:p.Asp666Gly
XR_922888.1:n.3127A>G