Canonical Allele Identifier: CA350115593

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326272-A-G
• MyVariant Identifiers: chr2:g.209190996A>G (hg19) ; chr2:g.208326272A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326272A>G , CM000664.2:g.208326272A>G	GRCh38
NC_000002.11:g.209190996A>G , CM000664.1:g.209190996A>G	GRCh37
NC_000002.10:g.208899241A>G	NCBI36
NG_021188.1:g.65006A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3461A>G MANE Select	ENSP00000264380.4:p.Asp1154Gly
ENST00000264380.8:c.3461A>G	ENSP00000264380.4:p.Asp1154Gly
ENST00000452564.1:c.3293A>G	ENSP00000405736.1:p.Asp1098Gly
NM_015040.3:c.3461A>G	NP_055855.2:p.Asp1154Gly
XM_011510778.1:c.3497A>G	XP_011509080.1:p.Asp1166Gly
XM_011510779.1:c.3497A>G	XP_011509081.1:p.Asp1166Gly
XM_011510780.1:c.3494A>G	XP_011509082.1:p.Asp1165Gly
XM_011510781.1:c.3479A>G	XP_011509083.1:p.Asp1160Gly
XM_011510782.1:c.3497A>G	XP_011509084.1:p.Asp1166Gly
XM_011510783.1:c.3329A>G	XP_011509085.1:p.Asp1110Gly
XM_011510784.1:c.3326A>G	XP_011509086.1:p.Asp1109Gly
XM_011510785.1:c.3311A>G	XP_011509087.1:p.Asp1104Gly
XM_011510786.1:c.3206A>G	XP_011509088.1:p.Asp1069Gly
XM_011510787.1:c.3203A>G	XP_011509089.1:p.Asp1068Gly
XM_011510788.1:c.3170A>G	XP_011509090.1:p.Asp1057Gly
XM_011510789.1:c.3020A>G	XP_011509091.1:p.Asp1007Gly
XM_011510790.1:c.2504A>G	XP_011509092.1:p.Asp835Gly
XM_011510791.1:c.2504A>G	XP_011509093.1:p.Asp835Gly
XM_011510792.1:c.3497A>G	XP_011509094.1:p.Asp1166Gly
XR_922888.1:n.3634A>G
XM_011510778.3:c.3497A>G	XP_011509080.1:p.Asp1166Gly
XM_011510779.2:c.3497A>G	XP_011509081.1:p.Asp1166Gly
XM_011510780.2:c.3494A>G	XP_011509082.1:p.Asp1165Gly
XM_011510781.3:c.3479A>G	XP_011509083.1:p.Asp1160Gly
XM_011510782.3:c.3497A>G	XP_011509084.1:p.Asp1166Gly
XM_011510783.3:c.3329A>G	XP_011509085.1:p.Asp1110Gly
XM_011510784.2:c.3326A>G	XP_011509086.1:p.Asp1109Gly
XM_011510785.3:c.3311A>G	XP_011509087.1:p.Asp1104Gly
XM_011510786.3:c.3206A>G	XP_011509088.1:p.Asp1069Gly
XM_011510789.2:c.3020A>G	XP_011509091.1:p.Asp1007Gly
XM_011510792.3:c.3497A>G	XP_011509094.1:p.Asp1166Gly
XM_017003568.1:c.3443A>G	XP_016859057.1:p.Asp1148Gly
XM_017003569.1:c.3275A>G	XP_016859058.1:p.Asp1092Gly
XM_017003570.1:c.3002A>G	XP_016859059.1:p.Asp1001Gly
XM_017003571.1:c.2852A>G	XP_016859060.1:p.Asp951Gly
XM_017003572.1:c.2504A>G	XP_016859061.1:p.Asp835Gly
XM_017003573.1:c.2504A>G	XP_016859062.1:p.Asp835Gly
XM_017003574.1:c.2504A>G	XP_016859063.1:p.Asp835Gly
NM_015040.4:c.3461A>G MANE Select	NP_055855.2:p.Asp1154Gly