Canonical Allele Identifier: CA350115445

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190929G>T (hg19) ; chr2:g.208326205G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326205G>T , CM000664.2:g.208326205G>T	GRCh38
NC_000002.11:g.209190929G>T , CM000664.1:g.209190929G>T	GRCh37
NC_000002.10:g.208899174G>T	NCBI36
NG_021188.1:g.64939G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3394G>T MANE Select	ENSP00000264380.4:p.Glu1132Ter
ENST00000264380.8:c.3394G>T	ENSP00000264380.4:p.Glu1132Ter
ENST00000452564.1:c.3226G>T	ENSP00000405736.1:p.Glu1076Ter
NM_015040.3:c.3394G>T	NP_055855.2:p.Glu1132Ter
XM_011510778.1:c.3430G>T	XP_011509080.1:p.Glu1144Ter
XM_011510779.1:c.3430G>T	XP_011509081.1:p.Glu1144Ter
XM_011510780.1:c.3427G>T	XP_011509082.1:p.Glu1143Ter
XM_011510781.1:c.3412G>T	XP_011509083.1:p.Glu1138Ter
XM_011510782.1:c.3430G>T	XP_011509084.1:p.Glu1144Ter
XM_011510783.1:c.3262G>T	XP_011509085.1:p.Glu1088Ter
XM_011510784.1:c.3259G>T	XP_011509086.1:p.Glu1087Ter
XM_011510785.1:c.3244G>T	XP_011509087.1:p.Glu1082Ter
XM_011510786.1:c.3139G>T	XP_011509088.1:p.Glu1047Ter
XM_011510787.1:c.3136G>T	XP_011509089.1:p.Glu1046Ter
XM_011510788.1:c.3103G>T	XP_011509090.1:p.Glu1035Ter
XM_011510789.1:c.2953G>T	XP_011509091.1:p.Glu985Ter
XM_011510790.1:c.2437G>T	XP_011509092.1:p.Glu813Ter
XM_011510791.1:c.2437G>T	XP_011509093.1:p.Glu813Ter
XM_011510792.1:c.3430G>T	XP_011509094.1:p.Glu1144Ter
XR_922888.1:n.3567G>T
XM_011510778.3:c.3430G>T	XP_011509080.1:p.Glu1144Ter
XM_011510779.2:c.3430G>T	XP_011509081.1:p.Glu1144Ter
XM_011510780.2:c.3427G>T	XP_011509082.1:p.Glu1143Ter
XM_011510781.3:c.3412G>T	XP_011509083.1:p.Glu1138Ter
XM_011510782.3:c.3430G>T	XP_011509084.1:p.Glu1144Ter
XM_011510783.3:c.3262G>T	XP_011509085.1:p.Glu1088Ter
XM_011510784.2:c.3259G>T	XP_011509086.1:p.Glu1087Ter
XM_011510785.3:c.3244G>T	XP_011509087.1:p.Glu1082Ter
XM_011510786.3:c.3139G>T	XP_011509088.1:p.Glu1047Ter
XM_011510789.2:c.2953G>T	XP_011509091.1:p.Glu985Ter
XM_011510792.3:c.3430G>T	XP_011509094.1:p.Glu1144Ter
XM_017003568.1:c.3376G>T	XP_016859057.1:p.Glu1126Ter
XM_017003569.1:c.3208G>T	XP_016859058.1:p.Glu1070Ter
XM_017003570.1:c.2935G>T	XP_016859059.1:p.Glu979Ter
XM_017003571.1:c.2785G>T	XP_016859060.1:p.Glu929Ter
XM_017003572.1:c.2437G>T	XP_016859061.1:p.Glu813Ter
XM_017003573.1:c.2437G>T	XP_016859062.1:p.Glu813Ter
XM_017003574.1:c.2437G>T	XP_016859063.1:p.Glu813Ter
NM_015040.4:c.3394G>T MANE Select	NP_055855.2:p.Glu1132Ter