Canonical Allele Identifier: CA350115820

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191100G>T (hg19) ; chr2:g.208326376G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326376G>T , CM000664.2:g.208326376G>T	GRCh38
NC_000002.11:g.209191100G>T , CM000664.1:g.209191100G>T	GRCh37
NC_000002.10:g.208899345G>T	NCBI36
NG_021188.1:g.65110G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3565G>T MANE Select	ENSP00000264380.4:p.Glu1189Ter
ENST00000264380.8:c.3565G>T	ENSP00000264380.4:p.Glu1189Ter
ENST00000452564.1:c.3397G>T	ENSP00000405736.1:p.Glu1133Ter
NM_015040.3:c.3565G>T	NP_055855.2:p.Glu1189Ter
XM_011510778.1:c.3601G>T	XP_011509080.1:p.Glu1201Ter
XM_011510779.1:c.3601G>T	XP_011509081.1:p.Glu1201Ter
XM_011510780.1:c.3598G>T	XP_011509082.1:p.Glu1200Ter
XM_011510781.1:c.3583G>T	XP_011509083.1:p.Glu1195Ter
XM_011510782.1:c.3601G>T	XP_011509084.1:p.Glu1201Ter
XM_011510783.1:c.3433G>T	XP_011509085.1:p.Glu1145Ter
XM_011510784.1:c.3430G>T	XP_011509086.1:p.Glu1144Ter
XM_011510785.1:c.3415G>T	XP_011509087.1:p.Glu1139Ter
XM_011510786.1:c.3310G>T	XP_011509088.1:p.Glu1104Ter
XM_011510787.1:c.3307G>T	XP_011509089.1:p.Glu1103Ter
XM_011510788.1:c.3274G>T	XP_011509090.1:p.Glu1092Ter
XM_011510789.1:c.3124G>T	XP_011509091.1:p.Glu1042Ter
XM_011510790.1:c.2608G>T	XP_011509092.1:p.Glu870Ter
XM_011510791.1:c.2608G>T	XP_011509093.1:p.Glu870Ter
XM_011510792.1:c.3601G>T	XP_011509094.1:p.Glu1201Ter
XR_922888.1:n.3738G>T
XM_011510778.3:c.3601G>T	XP_011509080.1:p.Glu1201Ter
XM_011510779.2:c.3601G>T	XP_011509081.1:p.Glu1201Ter
XM_011510780.2:c.3598G>T	XP_011509082.1:p.Glu1200Ter
XM_011510781.3:c.3583G>T	XP_011509083.1:p.Glu1195Ter
XM_011510782.3:c.3601G>T	XP_011509084.1:p.Glu1201Ter
XM_011510783.3:c.3433G>T	XP_011509085.1:p.Glu1145Ter
XM_011510784.2:c.3430G>T	XP_011509086.1:p.Glu1144Ter
XM_011510785.3:c.3415G>T	XP_011509087.1:p.Glu1139Ter
XM_011510786.3:c.3310G>T	XP_011509088.1:p.Glu1104Ter
XM_011510789.2:c.3124G>T	XP_011509091.1:p.Glu1042Ter
XM_011510792.3:c.3601G>T	XP_011509094.1:p.Glu1201Ter
XM_017003568.1:c.3547G>T	XP_016859057.1:p.Glu1183Ter
XM_017003569.1:c.3379G>T	XP_016859058.1:p.Glu1127Ter
XM_017003570.1:c.3106G>T	XP_016859059.1:p.Glu1036Ter
XM_017003571.1:c.2956G>T	XP_016859060.1:p.Glu986Ter
XM_017003572.1:c.2608G>T	XP_016859061.1:p.Glu870Ter
XM_017003573.1:c.2608G>T	XP_016859062.1:p.Glu870Ter
XM_017003574.1:c.2608G>T	XP_016859063.1:p.Glu870Ter
NM_015040.4:c.3565G>T MANE Select	NP_055855.2:p.Glu1189Ter