Canonical Allele Identifier: CA64618498

Gene: PIKFYVE

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208358379A>C , CM000664.2:g.208358379A>C	GRCh38
NC_000002.11:g.209223103A>C , CM000664.1:g.209223103A>C	GRCh37
NC_000002.10:g.208931348A>C	NCBI36
NG_021188.1:g.97113A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015040.4:c.*3074A>C MANE Select	NP_055855.2:n.*3074A>C
ENST00000264380.9:c.*3074A>C MANE Select	ENSP00000264380.4:n.*3074A>C
NM_015040.3:c.*3074A>C	NP_055855.2:n.*3074A>C
ENST00000264380.8:c.*3074A>C	ENSP00000264380.4:n.*3074A>C
XM_011510778.1:c.*3074A>C	XP_011509080.1:n.*3074A>C
XM_011510778.3:c.*3074A>C	XP_011509080.1:n.*3074A>C
XM_011510779.1:c.*3074A>C	XP_011509081.1:n.*3074A>C
XM_011510779.2:c.*3074A>C	XP_011509081.1:n.*3074A>C
XM_011510780.1:c.*3074A>C	XP_011509082.1:n.*3074A>C
XM_011510780.2:c.*3074A>C	XP_011509082.1:n.*3074A>C
XM_011510781.1:c.*3074A>C	XP_011509083.1:n.*3074A>C
XM_011510781.3:c.*3074A>C	XP_011509083.1:n.*3074A>C
XM_011510782.1:c.*3074A>C	XP_011509084.1:n.*3074A>C
XM_011510782.3:c.*3074A>C	XP_011509084.1:n.*3074A>C
XM_011510783.1:c.*3074A>C	XP_011509085.1:n.*3074A>C
XM_011510783.3:c.*3074A>C	XP_011509085.1:n.*3074A>C
XM_011510784.1:c.*3074A>C	XP_011509086.1:n.*3074A>C
XM_011510784.2:c.*3074A>C	XP_011509086.1:n.*3074A>C
XM_011510785.1:c.*3074A>C	XP_011509087.1:n.*3074A>C
XM_011510785.3:c.*3074A>C	XP_011509087.1:n.*3074A>C
XM_011510786.1:c.*3074A>C	XP_011509088.1:n.*3074A>C
XM_011510786.3:c.*3074A>C	XP_011509088.1:n.*3074A>C
XM_011510787.1:c.*3074A>C	XP_011509089.1:n.*3074A>C
XM_011510788.1:c.*3074A>C	XP_011509090.1:n.*3074A>C
XM_011510789.1:c.*3074A>C	XP_011509091.1:n.*3074A>C
XM_011510789.2:c.*3074A>C	XP_011509091.1:n.*3074A>C
XM_011510790.1:c.*3074A>C	XP_011509092.1:n.*3074A>C
XM_011510791.1:c.*3074A>C	XP_011509093.1:n.*3074A>C
XM_017003568.1:c.*3074A>C	XP_016859057.1:n.*3074A>C
XM_017003569.1:c.*3074A>C	XP_016859058.1:n.*3074A>C
XM_017003570.1:c.*3074A>C	XP_016859059.1:n.*3074A>C
XM_017003571.1:c.*3074A>C	XP_016859060.1:n.*3074A>C
XM_017003572.1:c.*3074A>C	XP_016859061.1:n.*3074A>C
XM_017003573.1:c.*3074A>C	XP_016859062.1:n.*3074A>C
XM_017003574.1:c.*3074A>C	XP_016859063.1:n.*3074A>C