Canonical Allele Identifier: CA431117685

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190946A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326222A>G , CM000664.2:g.208326222A>G	GRCh38
NC_000002.11:g.209190946A>G , CM000664.1:g.209190946A>G	GRCh37
NC_000002.10:g.208899191A>G	NCBI36
NG_021188.1:g.64956A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3411A>G MANE Select	ENSP00000264380.4:p.Arg1137=
ENST00000264380.8:c.3411A>G	ENSP00000264380.4:p.Arg1137=
ENST00000452564.1:c.3243A>G	ENSP00000405736.1:p.Arg1081=
NM_015040.3:c.3411A>G	NP_055855.2:p.Arg1137=
XM_011510778.1:c.3447A>G	XP_011509080.1:p.Arg1149=
XM_011510779.1:c.3447A>G	XP_011509081.1:p.Arg1149=
XM_011510780.1:c.3444A>G	XP_011509082.1:p.Arg1148=
XM_011510781.1:c.3429A>G	XP_011509083.1:p.Arg1143=
XM_011510782.1:c.3447A>G	XP_011509084.1:p.Arg1149=
XM_011510783.1:c.3279A>G	XP_011509085.1:p.Arg1093=
XM_011510784.1:c.3276A>G	XP_011509086.1:p.Arg1092=
XM_011510785.1:c.3261A>G	XP_011509087.1:p.Arg1087=
XM_011510786.1:c.3156A>G	XP_011509088.1:p.Arg1052=
XM_011510787.1:c.3153A>G	XP_011509089.1:p.Arg1051=
XM_011510788.1:c.3120A>G	XP_011509090.1:p.Arg1040=
XM_011510789.1:c.2970A>G	XP_011509091.1:p.Arg990=
XM_011510790.1:c.2454A>G	XP_011509092.1:p.Arg818=
XM_011510791.1:c.2454A>G	XP_011509093.1:p.Arg818=
XM_011510792.1:c.3447A>G	XP_011509094.1:p.Arg1149=
XR_922888.1:n.3584A>G
XM_011510778.3:c.3447A>G	XP_011509080.1:p.Arg1149=
XM_011510779.2:c.3447A>G	XP_011509081.1:p.Arg1149=
XM_011510780.2:c.3444A>G	XP_011509082.1:p.Arg1148=
XM_011510781.3:c.3429A>G	XP_011509083.1:p.Arg1143=
XM_011510782.3:c.3447A>G	XP_011509084.1:p.Arg1149=
XM_011510783.3:c.3279A>G	XP_011509085.1:p.Arg1093=
XM_011510784.2:c.3276A>G	XP_011509086.1:p.Arg1092=
XM_011510785.3:c.3261A>G	XP_011509087.1:p.Arg1087=
XM_011510786.3:c.3156A>G	XP_011509088.1:p.Arg1052=
XM_011510789.2:c.2970A>G	XP_011509091.1:p.Arg990=
XM_011510792.3:c.3447A>G	XP_011509094.1:p.Arg1149=
XM_017003568.1:c.3393A>G	XP_016859057.1:p.Arg1131=
XM_017003569.1:c.3225A>G	XP_016859058.1:p.Arg1075=
XM_017003570.1:c.2952A>G	XP_016859059.1:p.Arg984=
XM_017003571.1:c.2802A>G	XP_016859060.1:p.Arg934=
XM_017003572.1:c.2454A>G	XP_016859061.1:p.Arg818=
XM_017003573.1:c.2454A>G	XP_016859062.1:p.Arg818=
XM_017003574.1:c.2454A>G	XP_016859063.1:p.Arg818=
NM_015040.4:c.3411A>G MANE Select	NP_055855.2:p.Arg1137=