Canonical Allele Identifier: CA2080352

Gene: PIKFYVE

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208336902A>C , CM000664.2:g.208336902A>C	GRCh38
NC_000002.11:g.209201626A>C , CM000664.1:g.209201626A>C	GRCh37
NC_000002.10:g.208909871A>C	NCBI36
NG_021188.1:g.75636A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015040.4:c.4585A>C MANE Select	NP_055855.2:p.Arg1529=
ENST00000264380.9:c.4585A>C MANE Select	ENSP00000264380.4:p.Arg1529=
NM_015040.3:c.4585A>C	NP_055855.2:p.Arg1529=
ENST00000264380.8:c.4585A>C	ENSP00000264380.4:p.Arg1529=
XM_011510778.1:c.4621A>C	XP_011509080.1:p.Arg1541=
XM_011510778.3:c.4621A>C	XP_011509080.1:p.Arg1541=
XM_011510779.1:c.4621A>C	XP_011509081.1:p.Arg1541=
XM_011510779.2:c.4621A>C	XP_011509081.1:p.Arg1541=
XM_011510780.1:c.4618A>C	XP_011509082.1:p.Arg1540=
XM_011510780.2:c.4618A>C	XP_011509082.1:p.Arg1540=
XM_011510781.1:c.4603A>C	XP_011509083.1:p.Arg1535=
XM_011510781.3:c.4603A>C	XP_011509083.1:p.Arg1535=
XM_011510782.1:c.4621A>C	XP_011509084.1:p.Arg1541=
XM_011510782.3:c.4621A>C	XP_011509084.1:p.Arg1541=
XM_011510783.1:c.4453A>C	XP_011509085.1:p.Arg1485=
XM_011510783.3:c.4453A>C	XP_011509085.1:p.Arg1485=
XM_011510784.1:c.4450A>C	XP_011509086.1:p.Arg1484=
XM_011510784.2:c.4450A>C	XP_011509086.1:p.Arg1484=
XM_011510785.1:c.4435A>C	XP_011509087.1:p.Arg1479=
XM_011510785.3:c.4435A>C	XP_011509087.1:p.Arg1479=
XM_011510786.1:c.4330A>C	XP_011509088.1:p.Arg1444=
XM_011510786.3:c.4330A>C	XP_011509088.1:p.Arg1444=
XM_011510787.1:c.4327A>C	XP_011509089.1:p.Arg1443=
XM_011510788.1:c.4294A>C	XP_011509090.1:p.Arg1432=
XM_011510789.1:c.4144A>C	XP_011509091.1:p.Arg1382=
XM_011510789.2:c.4144A>C	XP_011509091.1:p.Arg1382=
XM_011510790.1:c.3628A>C	XP_011509092.1:p.Arg1210=
XM_011510791.1:c.3628A>C	XP_011509093.1:p.Arg1210=
XM_017003568.1:c.4567A>C	XP_016859057.1:p.Arg1523=
XM_017003569.1:c.4399A>C	XP_016859058.1:p.Arg1467=
XM_017003570.1:c.4126A>C	XP_016859059.1:p.Arg1376=
XM_017003571.1:c.3976A>C	XP_016859060.1:p.Arg1326=
XM_017003572.1:c.3628A>C	XP_016859061.1:p.Arg1210=
XM_017003573.1:c.3628A>C	XP_016859062.1:p.Arg1210=
XM_017003574.1:c.3628A>C	XP_016859063.1:p.Arg1210=
XR_922888.1:n.4758A>C