Canonical Allele Identifier: CA350115437

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190926C>G (hg19) ; chr2:g.208326202C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326202C>G , CM000664.2:g.208326202C>G	GRCh38
NC_000002.11:g.209190926C>G , CM000664.1:g.209190926C>G	GRCh37
NC_000002.10:g.208899171C>G	NCBI36
NG_021188.1:g.64936C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3391C>G MANE Select	ENSP00000264380.4:p.His1131Asp
ENST00000264380.8:c.3391C>G	ENSP00000264380.4:p.His1131Asp
ENST00000452564.1:c.3223C>G	ENSP00000405736.1:p.His1075Asp
NM_015040.3:c.3391C>G	NP_055855.2:p.His1131Asp
XM_011510778.1:c.3427C>G	XP_011509080.1:p.His1143Asp
XM_011510779.1:c.3427C>G	XP_011509081.1:p.His1143Asp
XM_011510780.1:c.3424C>G	XP_011509082.1:p.His1142Asp
XM_011510781.1:c.3409C>G	XP_011509083.1:p.His1137Asp
XM_011510782.1:c.3427C>G	XP_011509084.1:p.His1143Asp
XM_011510783.1:c.3259C>G	XP_011509085.1:p.His1087Asp
XM_011510784.1:c.3256C>G	XP_011509086.1:p.His1086Asp
XM_011510785.1:c.3241C>G	XP_011509087.1:p.His1081Asp
XM_011510786.1:c.3136C>G	XP_011509088.1:p.His1046Asp
XM_011510787.1:c.3133C>G	XP_011509089.1:p.His1045Asp
XM_011510788.1:c.3100C>G	XP_011509090.1:p.His1034Asp
XM_011510789.1:c.2950C>G	XP_011509091.1:p.His984Asp
XM_011510790.1:c.2434C>G	XP_011509092.1:p.His812Asp
XM_011510791.1:c.2434C>G	XP_011509093.1:p.His812Asp
XM_011510792.1:c.3427C>G	XP_011509094.1:p.His1143Asp
XR_922888.1:n.3564C>G
XM_011510778.3:c.3427C>G	XP_011509080.1:p.His1143Asp
XM_011510779.2:c.3427C>G	XP_011509081.1:p.His1143Asp
XM_011510780.2:c.3424C>G	XP_011509082.1:p.His1142Asp
XM_011510781.3:c.3409C>G	XP_011509083.1:p.His1137Asp
XM_011510782.3:c.3427C>G	XP_011509084.1:p.His1143Asp
XM_011510783.3:c.3259C>G	XP_011509085.1:p.His1087Asp
XM_011510784.2:c.3256C>G	XP_011509086.1:p.His1086Asp
XM_011510785.3:c.3241C>G	XP_011509087.1:p.His1081Asp
XM_011510786.3:c.3136C>G	XP_011509088.1:p.His1046Asp
XM_011510789.2:c.2950C>G	XP_011509091.1:p.His984Asp
XM_011510792.3:c.3427C>G	XP_011509094.1:p.His1143Asp
XM_017003568.1:c.3373C>G	XP_016859057.1:p.His1125Asp
XM_017003569.1:c.3205C>G	XP_016859058.1:p.His1069Asp
XM_017003570.1:c.2932C>G	XP_016859059.1:p.His978Asp
XM_017003571.1:c.2782C>G	XP_016859060.1:p.His928Asp
XM_017003572.1:c.2434C>G	XP_016859061.1:p.His812Asp
XM_017003573.1:c.2434C>G	XP_016859062.1:p.His812Asp
XM_017003574.1:c.2434C>G	XP_016859063.1:p.His812Asp
NM_015040.4:c.3391C>G MANE Select	NP_055855.2:p.His1131Asp