Canonical Allele Identifier: CA350115516

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190962G>C (hg19) ; chr2:g.208326238G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326238G>C , CM000664.2:g.208326238G>C	GRCh38
NC_000002.11:g.209190962G>C , CM000664.1:g.209190962G>C	GRCh37
NC_000002.10:g.208899207G>C	NCBI36
NG_021188.1:g.64972G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3427G>C MANE Select	ENSP00000264380.4:p.Gly1143Arg
ENST00000264380.8:c.3427G>C	ENSP00000264380.4:p.Gly1143Arg
ENST00000452564.1:c.3259G>C	ENSP00000405736.1:p.Gly1087Arg
NM_015040.3:c.3427G>C	NP_055855.2:p.Gly1143Arg
XM_011510778.1:c.3463G>C	XP_011509080.1:p.Gly1155Arg
XM_011510779.1:c.3463G>C	XP_011509081.1:p.Gly1155Arg
XM_011510780.1:c.3460G>C	XP_011509082.1:p.Gly1154Arg
XM_011510781.1:c.3445G>C	XP_011509083.1:p.Gly1149Arg
XM_011510782.1:c.3463G>C	XP_011509084.1:p.Gly1155Arg
XM_011510783.1:c.3295G>C	XP_011509085.1:p.Gly1099Arg
XM_011510784.1:c.3292G>C	XP_011509086.1:p.Gly1098Arg
XM_011510785.1:c.3277G>C	XP_011509087.1:p.Gly1093Arg
XM_011510786.1:c.3172G>C	XP_011509088.1:p.Gly1058Arg
XM_011510787.1:c.3169G>C	XP_011509089.1:p.Gly1057Arg
XM_011510788.1:c.3136G>C	XP_011509090.1:p.Gly1046Arg
XM_011510789.1:c.2986G>C	XP_011509091.1:p.Gly996Arg
XM_011510790.1:c.2470G>C	XP_011509092.1:p.Gly824Arg
XM_011510791.1:c.2470G>C	XP_011509093.1:p.Gly824Arg
XM_011510792.1:c.3463G>C	XP_011509094.1:p.Gly1155Arg
XR_922888.1:n.3600G>C
XM_011510778.3:c.3463G>C	XP_011509080.1:p.Gly1155Arg
XM_011510779.2:c.3463G>C	XP_011509081.1:p.Gly1155Arg
XM_011510780.2:c.3460G>C	XP_011509082.1:p.Gly1154Arg
XM_011510781.3:c.3445G>C	XP_011509083.1:p.Gly1149Arg
XM_011510782.3:c.3463G>C	XP_011509084.1:p.Gly1155Arg
XM_011510783.3:c.3295G>C	XP_011509085.1:p.Gly1099Arg
XM_011510784.2:c.3292G>C	XP_011509086.1:p.Gly1098Arg
XM_011510785.3:c.3277G>C	XP_011509087.1:p.Gly1093Arg
XM_011510786.3:c.3172G>C	XP_011509088.1:p.Gly1058Arg
XM_011510789.2:c.2986G>C	XP_011509091.1:p.Gly996Arg
XM_011510792.3:c.3463G>C	XP_011509094.1:p.Gly1155Arg
XM_017003568.1:c.3409G>C	XP_016859057.1:p.Gly1137Arg
XM_017003569.1:c.3241G>C	XP_016859058.1:p.Gly1081Arg
XM_017003570.1:c.2968G>C	XP_016859059.1:p.Gly990Arg
XM_017003571.1:c.2818G>C	XP_016859060.1:p.Gly940Arg
XM_017003572.1:c.2470G>C	XP_016859061.1:p.Gly824Arg
XM_017003573.1:c.2470G>C	XP_016859062.1:p.Gly824Arg
XM_017003574.1:c.2470G>C	XP_016859063.1:p.Gly824Arg
NM_015040.4:c.3427G>C MANE Select	NP_055855.2:p.Gly1143Arg