Canonical Allele Identifier: CA431117029

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191003A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326279A>C , CM000664.2:g.208326279A>C	GRCh38
NC_000002.11:g.209191003A>C , CM000664.1:g.209191003A>C	GRCh37
NC_000002.10:g.208899248A>C	NCBI36
NG_021188.1:g.65013A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3468A>C MANE Select	ENSP00000264380.4:p.Arg1156=
ENST00000264380.8:c.3468A>C	ENSP00000264380.4:p.Arg1156=
ENST00000452564.1:c.3300A>C	ENSP00000405736.1:p.Arg1100=
NM_015040.3:c.3468A>C	NP_055855.2:p.Arg1156=
XM_011510778.1:c.3504A>C	XP_011509080.1:p.Arg1168=
XM_011510779.1:c.3504A>C	XP_011509081.1:p.Arg1168=
XM_011510780.1:c.3501A>C	XP_011509082.1:p.Arg1167=
XM_011510781.1:c.3486A>C	XP_011509083.1:p.Arg1162=
XM_011510782.1:c.3504A>C	XP_011509084.1:p.Arg1168=
XM_011510783.1:c.3336A>C	XP_011509085.1:p.Arg1112=
XM_011510784.1:c.3333A>C	XP_011509086.1:p.Arg1111=
XM_011510785.1:c.3318A>C	XP_011509087.1:p.Arg1106=
XM_011510786.1:c.3213A>C	XP_011509088.1:p.Arg1071=
XM_011510787.1:c.3210A>C	XP_011509089.1:p.Arg1070=
XM_011510788.1:c.3177A>C	XP_011509090.1:p.Arg1059=
XM_011510789.1:c.3027A>C	XP_011509091.1:p.Arg1009=
XM_011510790.1:c.2511A>C	XP_011509092.1:p.Arg837=
XM_011510791.1:c.2511A>C	XP_011509093.1:p.Arg837=
XM_011510792.1:c.3504A>C	XP_011509094.1:p.Arg1168=
XR_922888.1:n.3641A>C
XM_011510778.3:c.3504A>C	XP_011509080.1:p.Arg1168=
XM_011510779.2:c.3504A>C	XP_011509081.1:p.Arg1168=
XM_011510780.2:c.3501A>C	XP_011509082.1:p.Arg1167=
XM_011510781.3:c.3486A>C	XP_011509083.1:p.Arg1162=
XM_011510782.3:c.3504A>C	XP_011509084.1:p.Arg1168=
XM_011510783.3:c.3336A>C	XP_011509085.1:p.Arg1112=
XM_011510784.2:c.3333A>C	XP_011509086.1:p.Arg1111=
XM_011510785.3:c.3318A>C	XP_011509087.1:p.Arg1106=
XM_011510786.3:c.3213A>C	XP_011509088.1:p.Arg1071=
XM_011510789.2:c.3027A>C	XP_011509091.1:p.Arg1009=
XM_011510792.3:c.3504A>C	XP_011509094.1:p.Arg1168=
XM_017003568.1:c.3450A>C	XP_016859057.1:p.Arg1150=
XM_017003569.1:c.3282A>C	XP_016859058.1:p.Arg1094=
XM_017003570.1:c.3009A>C	XP_016859059.1:p.Arg1003=
XM_017003571.1:c.2859A>C	XP_016859060.1:p.Arg953=
XM_017003572.1:c.2511A>C	XP_016859061.1:p.Arg837=
XM_017003573.1:c.2511A>C	XP_016859062.1:p.Arg837=
XM_017003574.1:c.2511A>C	XP_016859063.1:p.Arg837=
NM_015040.4:c.3468A>C MANE Select	NP_055855.2:p.Arg1156=