Canonical Allele Identifier: CA350114319

Gene: PIKFYVE

Linked Data

• ClinVar Variation Id: 632338
• ClinVar RCV Id: RCV000779298
• dbSNP Id: rs1559130873
• MyVariant Identifiers: chr2:g.209190494C>T (hg19) ; chr2:g.208325770C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208325770C>T , CM000664.2:g.208325770C>T	GRCh38
NC_000002.11:g.209190494C>T , CM000664.1:g.209190494C>T	GRCh37
NC_000002.10:g.208898739C>T	NCBI36
NG_021188.1:g.64504C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.2959C>T MANE Select	ENSP00000264380.4:p.Gln987Ter
ENST00000264380.8:c.2959C>T	ENSP00000264380.4:p.Gln987Ter
ENST00000443896.5:c.*2310C>T	ENSP00000407692.1:n.*2310C>T
ENST00000452564.1:c.2791C>T	ENSP00000405736.1:p.Gln931Ter
NM_015040.3:c.2959C>T	NP_055855.2:p.Gln987Ter
XM_011510778.1:c.2995C>T	XP_011509080.1:p.Gln999Ter
XM_011510779.1:c.2995C>T	XP_011509081.1:p.Gln999Ter
XM_011510780.1:c.2992C>T	XP_011509082.1:p.Gln998Ter
XM_011510781.1:c.2977C>T	XP_011509083.1:p.Gln993Ter
XM_011510782.1:c.2995C>T	XP_011509084.1:p.Gln999Ter
XM_011510783.1:c.2827C>T	XP_011509085.1:p.Gln943Ter
XM_011510784.1:c.2824C>T	XP_011509086.1:p.Gln942Ter
XM_011510785.1:c.2809C>T	XP_011509087.1:p.Gln937Ter
XM_011510786.1:c.2704C>T	XP_011509088.1:p.Gln902Ter
XM_011510787.1:c.2701C>T	XP_011509089.1:p.Gln901Ter
XM_011510788.1:c.2668C>T	XP_011509090.1:p.Gln890Ter
XM_011510789.1:c.2518C>T	XP_011509091.1:p.Gln840Ter
XM_011510790.1:c.2002C>T	XP_011509092.1:p.Gln668Ter
XM_011510791.1:c.2002C>T	XP_011509093.1:p.Gln668Ter
XM_011510792.1:c.2995C>T	XP_011509094.1:p.Gln999Ter
XR_922888.1:n.3132C>T
XM_011510778.3:c.2995C>T	XP_011509080.1:p.Gln999Ter
XM_011510779.2:c.2995C>T	XP_011509081.1:p.Gln999Ter
XM_011510780.2:c.2992C>T	XP_011509082.1:p.Gln998Ter
XM_011510781.3:c.2977C>T	XP_011509083.1:p.Gln993Ter
XM_011510782.3:c.2995C>T	XP_011509084.1:p.Gln999Ter
XM_011510783.3:c.2827C>T	XP_011509085.1:p.Gln943Ter
XM_011510784.2:c.2824C>T	XP_011509086.1:p.Gln942Ter
XM_011510785.3:c.2809C>T	XP_011509087.1:p.Gln937Ter
XM_011510786.3:c.2704C>T	XP_011509088.1:p.Gln902Ter
XM_011510789.2:c.2518C>T	XP_011509091.1:p.Gln840Ter
XM_011510792.3:c.2995C>T	XP_011509094.1:p.Gln999Ter
XM_017003568.1:c.2941C>T	XP_016859057.1:p.Gln981Ter
XM_017003569.1:c.2773C>T	XP_016859058.1:p.Gln925Ter
XM_017003570.1:c.2500C>T	XP_016859059.1:p.Gln834Ter
XM_017003571.1:c.2350C>T	XP_016859060.1:p.Gln784Ter
XM_017003572.1:c.2002C>T	XP_016859061.1:p.Gln668Ter
XM_017003573.1:c.2002C>T	XP_016859062.1:p.Gln668Ter
XM_017003574.1:c.2002C>T	XP_016859063.1:p.Gln668Ter
NM_015040.4:c.2959C>T MANE Select	NP_055855.2:p.Gln987Ter