Canonical Allele Identifier: CA2080209

Gene: PIKFYVE

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208333393C>T , CM000664.2:g.208333393C>T	GRCh38
NC_000002.11:g.209198117C>T , CM000664.1:g.209198117C>T	GRCh37
NC_000002.10:g.208906362C>T	NCBI36
NG_021188.1:g.72127C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015040.4:c.4042C>T MANE Select	NP_055855.2:p.His1348Tyr
ENST00000264380.9:c.4042C>T MANE Select	ENSP00000264380.4:p.His1348Tyr
NM_015040.3:c.4042C>T	NP_055855.2:p.His1348Tyr
ENST00000264380.8:c.4042C>T	ENSP00000264380.4:p.His1348Tyr
ENST00000452564.1:c.3874C>T	ENSP00000405736.1:p.His1292Tyr
XM_011510778.1:c.4078C>T	XP_011509080.1:p.His1360Tyr
XM_011510778.3:c.4078C>T	XP_011509080.1:p.His1360Tyr
XM_011510779.1:c.4078C>T	XP_011509081.1:p.His1360Tyr
XM_011510779.2:c.4078C>T	XP_011509081.1:p.His1360Tyr
XM_011510780.1:c.4075C>T	XP_011509082.1:p.His1359Tyr
XM_011510780.2:c.4075C>T	XP_011509082.1:p.His1359Tyr
XM_011510781.1:c.4060C>T	XP_011509083.1:p.His1354Tyr
XM_011510781.3:c.4060C>T	XP_011509083.1:p.His1354Tyr
XM_011510782.1:c.4078C>T	XP_011509084.1:p.His1360Tyr
XM_011510782.3:c.4078C>T	XP_011509084.1:p.His1360Tyr
XM_011510783.1:c.3910C>T	XP_011509085.1:p.His1304Tyr
XM_011510783.3:c.3910C>T	XP_011509085.1:p.His1304Tyr
XM_011510784.1:c.3907C>T	XP_011509086.1:p.His1303Tyr
XM_011510784.2:c.3907C>T	XP_011509086.1:p.His1303Tyr
XM_011510785.1:c.3892C>T	XP_011509087.1:p.His1298Tyr
XM_011510785.3:c.3892C>T	XP_011509087.1:p.His1298Tyr
XM_011510786.1:c.3787C>T	XP_011509088.1:p.His1263Tyr
XM_011510786.3:c.3787C>T	XP_011509088.1:p.His1263Tyr
XM_011510787.1:c.3784C>T	XP_011509089.1:p.His1262Tyr
XM_011510788.1:c.3751C>T	XP_011509090.1:p.His1251Tyr
XM_011510789.1:c.3601C>T	XP_011509091.1:p.His1201Tyr
XM_011510789.2:c.3601C>T	XP_011509091.1:p.His1201Tyr
XM_011510790.1:c.3085C>T	XP_011509092.1:p.His1029Tyr
XM_011510791.1:c.3085C>T	XP_011509093.1:p.His1029Tyr
XM_011510792.1:c.4000-1913C>T	XP_011509094.1:n.4000-1913C>T
XM_011510792.3:c.4000-1913C>T	XP_011509094.1:n.4000-1913C>T
XM_017003568.1:c.4024C>T	XP_016859057.1:p.His1342Tyr
XM_017003569.1:c.3856C>T	XP_016859058.1:p.His1286Tyr
XM_017003570.1:c.3583C>T	XP_016859059.1:p.His1195Tyr
XM_017003571.1:c.3433C>T	XP_016859060.1:p.His1145Tyr
XM_017003572.1:c.3085C>T	XP_016859061.1:p.His1029Tyr
XM_017003573.1:c.3085C>T	XP_016859062.1:p.His1029Tyr
XM_017003574.1:c.3085C>T	XP_016859063.1:p.His1029Tyr
XR_922888.1:n.4215C>T