Canonical Allele Identifier: CA350115707

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191050A>C (hg19) ; chr2:g.208326326A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326326A>C , CM000664.2:g.208326326A>C	GRCh38
NC_000002.11:g.209191050A>C , CM000664.1:g.209191050A>C	GRCh37
NC_000002.10:g.208899295A>C	NCBI36
NG_021188.1:g.65060A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3515A>C MANE Select	ENSP00000264380.4:p.His1172Pro
ENST00000264380.8:c.3515A>C	ENSP00000264380.4:p.His1172Pro
ENST00000452564.1:c.3347A>C	ENSP00000405736.1:p.His1116Pro
NM_015040.3:c.3515A>C	NP_055855.2:p.His1172Pro
XM_011510778.1:c.3551A>C	XP_011509080.1:p.His1184Pro
XM_011510779.1:c.3551A>C	XP_011509081.1:p.His1184Pro
XM_011510780.1:c.3548A>C	XP_011509082.1:p.His1183Pro
XM_011510781.1:c.3533A>C	XP_011509083.1:p.His1178Pro
XM_011510782.1:c.3551A>C	XP_011509084.1:p.His1184Pro
XM_011510783.1:c.3383A>C	XP_011509085.1:p.His1128Pro
XM_011510784.1:c.3380A>C	XP_011509086.1:p.His1127Pro
XM_011510785.1:c.3365A>C	XP_011509087.1:p.His1122Pro
XM_011510786.1:c.3260A>C	XP_011509088.1:p.His1087Pro
XM_011510787.1:c.3257A>C	XP_011509089.1:p.His1086Pro
XM_011510788.1:c.3224A>C	XP_011509090.1:p.His1075Pro
XM_011510789.1:c.3074A>C	XP_011509091.1:p.His1025Pro
XM_011510790.1:c.2558A>C	XP_011509092.1:p.His853Pro
XM_011510791.1:c.2558A>C	XP_011509093.1:p.His853Pro
XM_011510792.1:c.3551A>C	XP_011509094.1:p.His1184Pro
XR_922888.1:n.3688A>C
XM_011510778.3:c.3551A>C	XP_011509080.1:p.His1184Pro
XM_011510779.2:c.3551A>C	XP_011509081.1:p.His1184Pro
XM_011510780.2:c.3548A>C	XP_011509082.1:p.His1183Pro
XM_011510781.3:c.3533A>C	XP_011509083.1:p.His1178Pro
XM_011510782.3:c.3551A>C	XP_011509084.1:p.His1184Pro
XM_011510783.3:c.3383A>C	XP_011509085.1:p.His1128Pro
XM_011510784.2:c.3380A>C	XP_011509086.1:p.His1127Pro
XM_011510785.3:c.3365A>C	XP_011509087.1:p.His1122Pro
XM_011510786.3:c.3260A>C	XP_011509088.1:p.His1087Pro
XM_011510789.2:c.3074A>C	XP_011509091.1:p.His1025Pro
XM_011510792.3:c.3551A>C	XP_011509094.1:p.His1184Pro
XM_017003568.1:c.3497A>C	XP_016859057.1:p.His1166Pro
XM_017003569.1:c.3329A>C	XP_016859058.1:p.His1110Pro
XM_017003570.1:c.3056A>C	XP_016859059.1:p.His1019Pro
XM_017003571.1:c.2906A>C	XP_016859060.1:p.His969Pro
XM_017003572.1:c.2558A>C	XP_016859061.1:p.His853Pro
XM_017003573.1:c.2558A>C	XP_016859062.1:p.His853Pro
XM_017003574.1:c.2558A>C	XP_016859063.1:p.His853Pro
NM_015040.4:c.3515A>C MANE Select	NP_055855.2:p.His1172Pro