Canonical Allele Identifier: CA350115505

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190957A>C (hg19) ; chr2:g.208326233A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326233A>C , CM000664.2:g.208326233A>C	GRCh38
NC_000002.11:g.209190957A>C , CM000664.1:g.209190957A>C	GRCh37
NC_000002.10:g.208899202A>C	NCBI36
NG_021188.1:g.64967A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3422A>C MANE Select	ENSP00000264380.4:p.His1141Pro
ENST00000264380.8:c.3422A>C	ENSP00000264380.4:p.His1141Pro
ENST00000452564.1:c.3254A>C	ENSP00000405736.1:p.His1085Pro
NM_015040.3:c.3422A>C	NP_055855.2:p.His1141Pro
XM_011510778.1:c.3458A>C	XP_011509080.1:p.His1153Pro
XM_011510779.1:c.3458A>C	XP_011509081.1:p.His1153Pro
XM_011510780.1:c.3455A>C	XP_011509082.1:p.His1152Pro
XM_011510781.1:c.3440A>C	XP_011509083.1:p.His1147Pro
XM_011510782.1:c.3458A>C	XP_011509084.1:p.His1153Pro
XM_011510783.1:c.3290A>C	XP_011509085.1:p.His1097Pro
XM_011510784.1:c.3287A>C	XP_011509086.1:p.His1096Pro
XM_011510785.1:c.3272A>C	XP_011509087.1:p.His1091Pro
XM_011510786.1:c.3167A>C	XP_011509088.1:p.His1056Pro
XM_011510787.1:c.3164A>C	XP_011509089.1:p.His1055Pro
XM_011510788.1:c.3131A>C	XP_011509090.1:p.His1044Pro
XM_011510789.1:c.2981A>C	XP_011509091.1:p.His994Pro
XM_011510790.1:c.2465A>C	XP_011509092.1:p.His822Pro
XM_011510791.1:c.2465A>C	XP_011509093.1:p.His822Pro
XM_011510792.1:c.3458A>C	XP_011509094.1:p.His1153Pro
XR_922888.1:n.3595A>C
XM_011510778.3:c.3458A>C	XP_011509080.1:p.His1153Pro
XM_011510779.2:c.3458A>C	XP_011509081.1:p.His1153Pro
XM_011510780.2:c.3455A>C	XP_011509082.1:p.His1152Pro
XM_011510781.3:c.3440A>C	XP_011509083.1:p.His1147Pro
XM_011510782.3:c.3458A>C	XP_011509084.1:p.His1153Pro
XM_011510783.3:c.3290A>C	XP_011509085.1:p.His1097Pro
XM_011510784.2:c.3287A>C	XP_011509086.1:p.His1096Pro
XM_011510785.3:c.3272A>C	XP_011509087.1:p.His1091Pro
XM_011510786.3:c.3167A>C	XP_011509088.1:p.His1056Pro
XM_011510789.2:c.2981A>C	XP_011509091.1:p.His994Pro
XM_011510792.3:c.3458A>C	XP_011509094.1:p.His1153Pro
XM_017003568.1:c.3404A>C	XP_016859057.1:p.His1135Pro
XM_017003569.1:c.3236A>C	XP_016859058.1:p.His1079Pro
XM_017003570.1:c.2963A>C	XP_016859059.1:p.His988Pro
XM_017003571.1:c.2813A>C	XP_016859060.1:p.His938Pro
XM_017003572.1:c.2465A>C	XP_016859061.1:p.His822Pro
XM_017003573.1:c.2465A>C	XP_016859062.1:p.His822Pro
XM_017003574.1:c.2465A>C	XP_016859063.1:p.His822Pro
NM_015040.4:c.3422A>C MANE Select	NP_055855.2:p.His1141Pro