Canonical Allele Identifier: CA350115513

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326236-T-G
• MyVariant Identifiers: chr2:g.209190960T>G (hg19) ; chr2:g.208326236T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326236T>G , CM000664.2:g.208326236T>G	GRCh38
NC_000002.11:g.209190960T>G , CM000664.1:g.209190960T>G	GRCh37
NC_000002.10:g.208899205T>G	NCBI36
NG_021188.1:g.64970T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3425T>G MANE Select	ENSP00000264380.4:p.Leu1142Arg
ENST00000264380.8:c.3425T>G	ENSP00000264380.4:p.Leu1142Arg
ENST00000452564.1:c.3257T>G	ENSP00000405736.1:p.Leu1086Arg
NM_015040.3:c.3425T>G	NP_055855.2:p.Leu1142Arg
XM_011510778.1:c.3461T>G	XP_011509080.1:p.Leu1154Arg
XM_011510779.1:c.3461T>G	XP_011509081.1:p.Leu1154Arg
XM_011510780.1:c.3458T>G	XP_011509082.1:p.Leu1153Arg
XM_011510781.1:c.3443T>G	XP_011509083.1:p.Leu1148Arg
XM_011510782.1:c.3461T>G	XP_011509084.1:p.Leu1154Arg
XM_011510783.1:c.3293T>G	XP_011509085.1:p.Leu1098Arg
XM_011510784.1:c.3290T>G	XP_011509086.1:p.Leu1097Arg
XM_011510785.1:c.3275T>G	XP_011509087.1:p.Leu1092Arg
XM_011510786.1:c.3170T>G	XP_011509088.1:p.Leu1057Arg
XM_011510787.1:c.3167T>G	XP_011509089.1:p.Leu1056Arg
XM_011510788.1:c.3134T>G	XP_011509090.1:p.Leu1045Arg
XM_011510789.1:c.2984T>G	XP_011509091.1:p.Leu995Arg
XM_011510790.1:c.2468T>G	XP_011509092.1:p.Leu823Arg
XM_011510791.1:c.2468T>G	XP_011509093.1:p.Leu823Arg
XM_011510792.1:c.3461T>G	XP_011509094.1:p.Leu1154Arg
XR_922888.1:n.3598T>G
XM_011510778.3:c.3461T>G	XP_011509080.1:p.Leu1154Arg
XM_011510779.2:c.3461T>G	XP_011509081.1:p.Leu1154Arg
XM_011510780.2:c.3458T>G	XP_011509082.1:p.Leu1153Arg
XM_011510781.3:c.3443T>G	XP_011509083.1:p.Leu1148Arg
XM_011510782.3:c.3461T>G	XP_011509084.1:p.Leu1154Arg
XM_011510783.3:c.3293T>G	XP_011509085.1:p.Leu1098Arg
XM_011510784.2:c.3290T>G	XP_011509086.1:p.Leu1097Arg
XM_011510785.3:c.3275T>G	XP_011509087.1:p.Leu1092Arg
XM_011510786.3:c.3170T>G	XP_011509088.1:p.Leu1057Arg
XM_011510789.2:c.2984T>G	XP_011509091.1:p.Leu995Arg
XM_011510792.3:c.3461T>G	XP_011509094.1:p.Leu1154Arg
XM_017003568.1:c.3407T>G	XP_016859057.1:p.Leu1136Arg
XM_017003569.1:c.3239T>G	XP_016859058.1:p.Leu1080Arg
XM_017003570.1:c.2966T>G	XP_016859059.1:p.Leu989Arg
XM_017003571.1:c.2816T>G	XP_016859060.1:p.Leu939Arg
XM_017003572.1:c.2468T>G	XP_016859061.1:p.Leu823Arg
XM_017003573.1:c.2468T>G	XP_016859062.1:p.Leu823Arg
XM_017003574.1:c.2468T>G	XP_016859063.1:p.Leu823Arg
NM_015040.4:c.3425T>G MANE Select	NP_055855.2:p.Leu1142Arg