Canonical Allele Identifier: CA350115853

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191114G>C (hg19) ; chr2:g.208326390G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326390G>C , CM000664.2:g.208326390G>C	GRCh38
NC_000002.11:g.209191114G>C , CM000664.1:g.209191114G>C	GRCh37
NC_000002.10:g.208899359G>C	NCBI36
NG_021188.1:g.65124G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3579G>C MANE Select	ENSP00000264380.4:p.Glu1193Asp
ENST00000264380.8:c.3579G>C	ENSP00000264380.4:p.Glu1193Asp
ENST00000452564.1:c.3411G>C	ENSP00000405736.1:p.Glu1137Asp
NM_015040.3:c.3579G>C	NP_055855.2:p.Glu1193Asp
XM_011510778.1:c.3615G>C	XP_011509080.1:p.Glu1205Asp
XM_011510779.1:c.3615G>C	XP_011509081.1:p.Glu1205Asp
XM_011510780.1:c.3612G>C	XP_011509082.1:p.Glu1204Asp
XM_011510781.1:c.3597G>C	XP_011509083.1:p.Glu1199Asp
XM_011510782.1:c.3615G>C	XP_011509084.1:p.Glu1205Asp
XM_011510783.1:c.3447G>C	XP_011509085.1:p.Glu1149Asp
XM_011510784.1:c.3444G>C	XP_011509086.1:p.Glu1148Asp
XM_011510785.1:c.3429G>C	XP_011509087.1:p.Glu1143Asp
XM_011510786.1:c.3324G>C	XP_011509088.1:p.Glu1108Asp
XM_011510787.1:c.3321G>C	XP_011509089.1:p.Glu1107Asp
XM_011510788.1:c.3288G>C	XP_011509090.1:p.Glu1096Asp
XM_011510789.1:c.3138G>C	XP_011509091.1:p.Glu1046Asp
XM_011510790.1:c.2622G>C	XP_011509092.1:p.Glu874Asp
XM_011510791.1:c.2622G>C	XP_011509093.1:p.Glu874Asp
XM_011510792.1:c.3615G>C	XP_011509094.1:p.Glu1205Asp
XR_922888.1:n.3752G>C
XM_011510778.3:c.3615G>C	XP_011509080.1:p.Glu1205Asp
XM_011510779.2:c.3615G>C	XP_011509081.1:p.Glu1205Asp
XM_011510780.2:c.3612G>C	XP_011509082.1:p.Glu1204Asp
XM_011510781.3:c.3597G>C	XP_011509083.1:p.Glu1199Asp
XM_011510782.3:c.3615G>C	XP_011509084.1:p.Glu1205Asp
XM_011510783.3:c.3447G>C	XP_011509085.1:p.Glu1149Asp
XM_011510784.2:c.3444G>C	XP_011509086.1:p.Glu1148Asp
XM_011510785.3:c.3429G>C	XP_011509087.1:p.Glu1143Asp
XM_011510786.3:c.3324G>C	XP_011509088.1:p.Glu1108Asp
XM_011510789.2:c.3138G>C	XP_011509091.1:p.Glu1046Asp
XM_011510792.3:c.3615G>C	XP_011509094.1:p.Glu1205Asp
XM_017003568.1:c.3561G>C	XP_016859057.1:p.Glu1187Asp
XM_017003569.1:c.3393G>C	XP_016859058.1:p.Glu1131Asp
XM_017003570.1:c.3120G>C	XP_016859059.1:p.Glu1040Asp
XM_017003571.1:c.2970G>C	XP_016859060.1:p.Glu990Asp
XM_017003572.1:c.2622G>C	XP_016859061.1:p.Glu874Asp
XM_017003573.1:c.2622G>C	XP_016859062.1:p.Glu874Asp
XM_017003574.1:c.2622G>C	XP_016859063.1:p.Glu874Asp
NM_015040.4:c.3579G>C MANE Select	NP_055855.2:p.Glu1193Asp