Canonical Allele Identifier: CA2080803
Community Standard Title: NM_015040.4(PIKFYVE):c.6165A>C (p.Gly2055=)
Gene: PIKFYVE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208354629A>C , CM000664.2:g.208354629A>C GRCh38
NC_000002.11:g.209219353A>C , CM000664.1:g.209219353A>C GRCh37
NC_000002.10:g.208927598A>C NCBI36
NG_021188.1:g.93363A>C

Transcript Alleles

HGVS Amino-acid Change
NM_015040.4:c.6165A>C MANE Select NP_055855.2:p.Gly2055=
ENST00000264380.9:c.6165A>C MANE Select ENSP00000264380.4:p.Gly2055=
NM_015040.3:c.6165A>C NP_055855.2:p.Gly2055=
ENST00000264380.8:c.6165A>C ENSP00000264380.4:p.Gly2055=
XM_011510778.1:c.6201A>C XP_011509080.1:p.Gly2067=
XM_011510778.3:c.6201A>C XP_011509080.1:p.Gly2067=
XM_011510779.1:c.6201A>C XP_011509081.1:p.Gly2067=
XM_011510779.2:c.6201A>C XP_011509081.1:p.Gly2067=
XM_011510780.1:c.6198A>C XP_011509082.1:p.Gly2066=
XM_011510780.2:c.6198A>C XP_011509082.1:p.Gly2066=
XM_011510781.1:c.6183A>C XP_011509083.1:p.Gly2061=
XM_011510781.3:c.6183A>C XP_011509083.1:p.Gly2061=
XM_011510782.1:c.6036A>C XP_011509084.1:p.Gly2012=
XM_011510782.3:c.6036A>C XP_011509084.1:p.Gly2012=
XM_011510783.1:c.6033A>C XP_011509085.1:p.Gly2011=
XM_011510783.3:c.6033A>C XP_011509085.1:p.Gly2011=
XM_011510784.1:c.6030A>C XP_011509086.1:p.Gly2010=
XM_011510784.2:c.6030A>C XP_011509086.1:p.Gly2010=
XM_011510785.1:c.6015A>C XP_011509087.1:p.Gly2005=
XM_011510785.3:c.6015A>C XP_011509087.1:p.Gly2005=
XM_011510786.1:c.5910A>C XP_011509088.1:p.Gly1970=
XM_011510786.3:c.5910A>C XP_011509088.1:p.Gly1970=
XM_011510787.1:c.5907A>C XP_011509089.1:p.Gly1969=
XM_011510788.1:c.5874A>C XP_011509090.1:p.Gly1958=
XM_011510789.1:c.5724A>C XP_011509091.1:p.Gly1908=
XM_011510789.2:c.5724A>C XP_011509091.1:p.Gly1908=
XM_011510790.1:c.5208A>C XP_011509092.1:p.Gly1736=
XM_011510791.1:c.5208A>C XP_011509093.1:p.Gly1736=
XM_017003568.1:c.6147A>C XP_016859057.1:p.Gly2049=
XM_017003569.1:c.5979A>C XP_016859058.1:p.Gly1993=
XM_017003570.1:c.5706A>C XP_016859059.1:p.Gly1902=
XM_017003571.1:c.5556A>C XP_016859060.1:p.Gly1852=
XM_017003572.1:c.5208A>C XP_016859061.1:p.Gly1736=
XM_017003573.1:c.5208A>C XP_016859062.1:p.Gly1736=
XM_017003574.1:c.5208A>C XP_016859063.1:p.Gly1736=