Canonical Allele Identifier: CA350115618

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326284-G-C
• MyVariant Identifiers: chr2:g.209191008G>C (hg19) ; chr2:g.208326284G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326284G>C , CM000664.2:g.208326284G>C	GRCh38
NC_000002.11:g.209191008G>C , CM000664.1:g.209191008G>C	GRCh37
NC_000002.10:g.208899253G>C	NCBI36
NG_021188.1:g.65018G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3473G>C MANE Select	ENSP00000264380.4:p.Arg1158Thr
ENST00000264380.8:c.3473G>C	ENSP00000264380.4:p.Arg1158Thr
ENST00000452564.1:c.3305G>C	ENSP00000405736.1:p.Arg1102Thr
NM_015040.3:c.3473G>C	NP_055855.2:p.Arg1158Thr
XM_011510778.1:c.3509G>C	XP_011509080.1:p.Arg1170Thr
XM_011510779.1:c.3509G>C	XP_011509081.1:p.Arg1170Thr
XM_011510780.1:c.3506G>C	XP_011509082.1:p.Arg1169Thr
XM_011510781.1:c.3491G>C	XP_011509083.1:p.Arg1164Thr
XM_011510782.1:c.3509G>C	XP_011509084.1:p.Arg1170Thr
XM_011510783.1:c.3341G>C	XP_011509085.1:p.Arg1114Thr
XM_011510784.1:c.3338G>C	XP_011509086.1:p.Arg1113Thr
XM_011510785.1:c.3323G>C	XP_011509087.1:p.Arg1108Thr
XM_011510786.1:c.3218G>C	XP_011509088.1:p.Arg1073Thr
XM_011510787.1:c.3215G>C	XP_011509089.1:p.Arg1072Thr
XM_011510788.1:c.3182G>C	XP_011509090.1:p.Arg1061Thr
XM_011510789.1:c.3032G>C	XP_011509091.1:p.Arg1011Thr
XM_011510790.1:c.2516G>C	XP_011509092.1:p.Arg839Thr
XM_011510791.1:c.2516G>C	XP_011509093.1:p.Arg839Thr
XM_011510792.1:c.3509G>C	XP_011509094.1:p.Arg1170Thr
XR_922888.1:n.3646G>C
XM_011510778.3:c.3509G>C	XP_011509080.1:p.Arg1170Thr
XM_011510779.2:c.3509G>C	XP_011509081.1:p.Arg1170Thr
XM_011510780.2:c.3506G>C	XP_011509082.1:p.Arg1169Thr
XM_011510781.3:c.3491G>C	XP_011509083.1:p.Arg1164Thr
XM_011510782.3:c.3509G>C	XP_011509084.1:p.Arg1170Thr
XM_011510783.3:c.3341G>C	XP_011509085.1:p.Arg1114Thr
XM_011510784.2:c.3338G>C	XP_011509086.1:p.Arg1113Thr
XM_011510785.3:c.3323G>C	XP_011509087.1:p.Arg1108Thr
XM_011510786.3:c.3218G>C	XP_011509088.1:p.Arg1073Thr
XM_011510789.2:c.3032G>C	XP_011509091.1:p.Arg1011Thr
XM_011510792.3:c.3509G>C	XP_011509094.1:p.Arg1170Thr
XM_017003568.1:c.3455G>C	XP_016859057.1:p.Arg1152Thr
XM_017003569.1:c.3287G>C	XP_016859058.1:p.Arg1096Thr
XM_017003570.1:c.3014G>C	XP_016859059.1:p.Arg1005Thr
XM_017003571.1:c.2864G>C	XP_016859060.1:p.Arg955Thr
XM_017003572.1:c.2516G>C	XP_016859061.1:p.Arg839Thr
XM_017003573.1:c.2516G>C	XP_016859062.1:p.Arg839Thr
XM_017003574.1:c.2516G>C	XP_016859063.1:p.Arg839Thr
NM_015040.4:c.3473G>C MANE Select	NP_055855.2:p.Arg1158Thr