Canonical Allele Identifier: CA350115442

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326204-T-G
• MyVariant Identifiers: chr2:g.209190928T>G (hg19) ; chr2:g.208326204T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326204T>G , CM000664.2:g.208326204T>G	GRCh38
NC_000002.11:g.209190928T>G , CM000664.1:g.209190928T>G	GRCh37
NC_000002.10:g.208899173T>G	NCBI36
NG_021188.1:g.64938T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3393T>G MANE Select	ENSP00000264380.4:p.His1131Gln
ENST00000264380.8:c.3393T>G	ENSP00000264380.4:p.His1131Gln
ENST00000452564.1:c.3225T>G	ENSP00000405736.1:p.His1075Gln
NM_015040.3:c.3393T>G	NP_055855.2:p.His1131Gln
XM_011510778.1:c.3429T>G	XP_011509080.1:p.His1143Gln
XM_011510779.1:c.3429T>G	XP_011509081.1:p.His1143Gln
XM_011510780.1:c.3426T>G	XP_011509082.1:p.His1142Gln
XM_011510781.1:c.3411T>G	XP_011509083.1:p.His1137Gln
XM_011510782.1:c.3429T>G	XP_011509084.1:p.His1143Gln
XM_011510783.1:c.3261T>G	XP_011509085.1:p.His1087Gln
XM_011510784.1:c.3258T>G	XP_011509086.1:p.His1086Gln
XM_011510785.1:c.3243T>G	XP_011509087.1:p.His1081Gln
XM_011510786.1:c.3138T>G	XP_011509088.1:p.His1046Gln
XM_011510787.1:c.3135T>G	XP_011509089.1:p.His1045Gln
XM_011510788.1:c.3102T>G	XP_011509090.1:p.His1034Gln
XM_011510789.1:c.2952T>G	XP_011509091.1:p.His984Gln
XM_011510790.1:c.2436T>G	XP_011509092.1:p.His812Gln
XM_011510791.1:c.2436T>G	XP_011509093.1:p.His812Gln
XM_011510792.1:c.3429T>G	XP_011509094.1:p.His1143Gln
XR_922888.1:n.3566T>G
XM_011510778.3:c.3429T>G	XP_011509080.1:p.His1143Gln
XM_011510779.2:c.3429T>G	XP_011509081.1:p.His1143Gln
XM_011510780.2:c.3426T>G	XP_011509082.1:p.His1142Gln
XM_011510781.3:c.3411T>G	XP_011509083.1:p.His1137Gln
XM_011510782.3:c.3429T>G	XP_011509084.1:p.His1143Gln
XM_011510783.3:c.3261T>G	XP_011509085.1:p.His1087Gln
XM_011510784.2:c.3258T>G	XP_011509086.1:p.His1086Gln
XM_011510785.3:c.3243T>G	XP_011509087.1:p.His1081Gln
XM_011510786.3:c.3138T>G	XP_011509088.1:p.His1046Gln
XM_011510789.2:c.2952T>G	XP_011509091.1:p.His984Gln
XM_011510792.3:c.3429T>G	XP_011509094.1:p.His1143Gln
XM_017003568.1:c.3375T>G	XP_016859057.1:p.His1125Gln
XM_017003569.1:c.3207T>G	XP_016859058.1:p.His1069Gln
XM_017003570.1:c.2934T>G	XP_016859059.1:p.His978Gln
XM_017003571.1:c.2784T>G	XP_016859060.1:p.His928Gln
XM_017003572.1:c.2436T>G	XP_016859061.1:p.His812Gln
XM_017003573.1:c.2436T>G	XP_016859062.1:p.His812Gln
XM_017003574.1:c.2436T>G	XP_016859063.1:p.His812Gln
NM_015040.4:c.3393T>G MANE Select	NP_055855.2:p.His1131Gln