Canonical Allele Identifier: CA2079685

Gene: PIKFYVE

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208315320G>A , CM000664.2:g.208315320G>A	GRCh38
NC_000002.11:g.209180044G>A , CM000664.1:g.209180044G>A	GRCh37
NC_000002.10:g.208888289G>A	NCBI36
NG_021188.1:g.54054G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015040.4:c.1954G>A MANE Select	NP_055855.2:p.Val652Ile
ENST00000264380.9:c.1954G>A MANE Select	ENSP00000264380.4:p.Val652Ile
NM_015040.3:c.1954G>A	NP_055855.2:p.Val652Ile
ENST00000264380.8:c.1954G>A	ENSP00000264380.4:p.Val652Ile
ENST00000443896.5:c.*1305G>A	ENSP00000407692.1:n.*1305G>A
ENST00000452564.1:c.1786G>A	ENSP00000405736.1:p.Val596Ile
XM_011510778.1:c.1990G>A	XP_011509080.1:p.Val664Ile
XM_011510778.3:c.1990G>A	XP_011509080.1:p.Val664Ile
XM_011510779.1:c.1990G>A	XP_011509081.1:p.Val664Ile
XM_011510779.2:c.1990G>A	XP_011509081.1:p.Val664Ile
XM_011510780.1:c.1987G>A	XP_011509082.1:p.Val663Ile
XM_011510780.2:c.1987G>A	XP_011509082.1:p.Val663Ile
XM_011510781.1:c.1972G>A	XP_011509083.1:p.Val658Ile
XM_011510781.3:c.1972G>A	XP_011509083.1:p.Val658Ile
XM_011510782.1:c.1990G>A	XP_011509084.1:p.Val664Ile
XM_011510782.3:c.1990G>A	XP_011509084.1:p.Val664Ile
XM_011510783.1:c.1822G>A	XP_011509085.1:p.Val608Ile
XM_011510783.3:c.1822G>A	XP_011509085.1:p.Val608Ile
XM_011510784.1:c.1819G>A	XP_011509086.1:p.Val607Ile
XM_011510784.2:c.1819G>A	XP_011509086.1:p.Val607Ile
XM_011510785.1:c.1804G>A	XP_011509087.1:p.Val602Ile
XM_011510785.3:c.1804G>A	XP_011509087.1:p.Val602Ile
XM_011510786.1:c.1699G>A	XP_011509088.1:p.Val567Ile
XM_011510786.3:c.1699G>A	XP_011509088.1:p.Val567Ile
XM_011510787.1:c.1696G>A	XP_011509089.1:p.Val566Ile
XM_011510788.1:c.1663G>A	XP_011509090.1:p.Val555Ile
XM_011510789.1:c.1513G>A	XP_011509091.1:p.Val505Ile
XM_011510789.2:c.1513G>A	XP_011509091.1:p.Val505Ile
XM_011510790.1:c.997G>A	XP_011509092.1:p.Val333Ile
XM_011510791.1:c.997G>A	XP_011509093.1:p.Val333Ile
XM_011510792.1:c.1990G>A	XP_011509094.1:p.Val664Ile
XM_011510792.3:c.1990G>A	XP_011509094.1:p.Val664Ile
XM_017003568.1:c.1936G>A	XP_016859057.1:p.Val646Ile
XM_017003569.1:c.1768G>A	XP_016859058.1:p.Val590Ile
XM_017003570.1:c.1495G>A	XP_016859059.1:p.Val499Ile
XM_017003571.1:c.1345G>A	XP_016859060.1:p.Val449Ile
XM_017003572.1:c.997G>A	XP_016859061.1:p.Val333Ile
XM_017003573.1:c.997G>A	XP_016859062.1:p.Val333Ile
XM_017003574.1:c.997G>A	XP_016859063.1:p.Val333Ile
XR_922888.1:n.2127G>A