Canonical Allele Identifier: CA2080545

Gene: PIKFYVE

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208346075A>G , CM000664.2:g.208346075A>G	GRCh38
NC_000002.11:g.209210799A>G , CM000664.1:g.209210799A>G	GRCh37
NC_000002.10:g.208919044A>G	NCBI36
NG_021188.1:g.84809A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015040.4:c.5137A>G MANE Select	NP_055855.2:p.Ser1713Gly
ENST00000264380.9:c.5137A>G MANE Select	ENSP00000264380.4:p.Ser1713Gly
NM_015040.3:c.5137A>G	NP_055855.2:p.Ser1713Gly
ENST00000264380.8:c.5137A>G	ENSP00000264380.4:p.Ser1713Gly
XM_011510778.1:c.5173A>G	XP_011509080.1:p.Ser1725Gly
XM_011510778.3:c.5173A>G	XP_011509080.1:p.Ser1725Gly
XM_011510779.1:c.5173A>G	XP_011509081.1:p.Ser1725Gly
XM_011510779.2:c.5173A>G	XP_011509081.1:p.Ser1725Gly
XM_011510780.1:c.5170A>G	XP_011509082.1:p.Ser1724Gly
XM_011510780.2:c.5170A>G	XP_011509082.1:p.Ser1724Gly
XM_011510781.1:c.5155A>G	XP_011509083.1:p.Ser1719Gly
XM_011510781.3:c.5155A>G	XP_011509083.1:p.Ser1719Gly
XM_011510782.1:c.5173A>G	XP_011509084.1:p.Ser1725Gly
XM_011510782.3:c.5173A>G	XP_011509084.1:p.Ser1725Gly
XM_011510783.1:c.5005A>G	XP_011509085.1:p.Ser1669Gly
XM_011510783.3:c.5005A>G	XP_011509085.1:p.Ser1669Gly
XM_011510784.1:c.5002A>G	XP_011509086.1:p.Ser1668Gly
XM_011510784.2:c.5002A>G	XP_011509086.1:p.Ser1668Gly
XM_011510785.1:c.4987A>G	XP_011509087.1:p.Ser1663Gly
XM_011510785.3:c.4987A>G	XP_011509087.1:p.Ser1663Gly
XM_011510786.1:c.4882A>G	XP_011509088.1:p.Ser1628Gly
XM_011510786.3:c.4882A>G	XP_011509088.1:p.Ser1628Gly
XM_011510787.1:c.4879A>G	XP_011509089.1:p.Ser1627Gly
XM_011510788.1:c.4846A>G	XP_011509090.1:p.Ser1616Gly
XM_011510789.1:c.4696A>G	XP_011509091.1:p.Ser1566Gly
XM_011510789.2:c.4696A>G	XP_011509091.1:p.Ser1566Gly
XM_011510790.1:c.4180A>G	XP_011509092.1:p.Ser1394Gly
XM_011510791.1:c.4180A>G	XP_011509093.1:p.Ser1394Gly
XM_017003568.1:c.5119A>G	XP_016859057.1:p.Ser1707Gly
XM_017003569.1:c.4951A>G	XP_016859058.1:p.Ser1651Gly
XM_017003570.1:c.4678A>G	XP_016859059.1:p.Ser1560Gly
XM_017003571.1:c.4528A>G	XP_016859060.1:p.Ser1510Gly
XM_017003572.1:c.4180A>G	XP_016859061.1:p.Ser1394Gly
XM_017003573.1:c.4180A>G	XP_016859062.1:p.Ser1394Gly
XM_017003574.1:c.4180A>G	XP_016859063.1:p.Ser1394Gly
XR_922888.1:n.5310A>G