Canonical Allele Identifier: CA350115681

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191037G>T (hg19) ; chr2:g.208326313G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326313G>T , CM000664.2:g.208326313G>T	GRCh38
NC_000002.11:g.209191037G>T , CM000664.1:g.209191037G>T	GRCh37
NC_000002.10:g.208899282G>T	NCBI36
NG_021188.1:g.65047G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3502G>T MANE Select	ENSP00000264380.4:p.Asp1168Tyr
ENST00000264380.8:c.3502G>T	ENSP00000264380.4:p.Asp1168Tyr
ENST00000452564.1:c.3334G>T	ENSP00000405736.1:p.Asp1112Tyr
NM_015040.3:c.3502G>T	NP_055855.2:p.Asp1168Tyr
XM_011510778.1:c.3538G>T	XP_011509080.1:p.Asp1180Tyr
XM_011510779.1:c.3538G>T	XP_011509081.1:p.Asp1180Tyr
XM_011510780.1:c.3535G>T	XP_011509082.1:p.Asp1179Tyr
XM_011510781.1:c.3520G>T	XP_011509083.1:p.Asp1174Tyr
XM_011510782.1:c.3538G>T	XP_011509084.1:p.Asp1180Tyr
XM_011510783.1:c.3370G>T	XP_011509085.1:p.Asp1124Tyr
XM_011510784.1:c.3367G>T	XP_011509086.1:p.Asp1123Tyr
XM_011510785.1:c.3352G>T	XP_011509087.1:p.Asp1118Tyr
XM_011510786.1:c.3247G>T	XP_011509088.1:p.Asp1083Tyr
XM_011510787.1:c.3244G>T	XP_011509089.1:p.Asp1082Tyr
XM_011510788.1:c.3211G>T	XP_011509090.1:p.Asp1071Tyr
XM_011510789.1:c.3061G>T	XP_011509091.1:p.Asp1021Tyr
XM_011510790.1:c.2545G>T	XP_011509092.1:p.Asp849Tyr
XM_011510791.1:c.2545G>T	XP_011509093.1:p.Asp849Tyr
XM_011510792.1:c.3538G>T	XP_011509094.1:p.Asp1180Tyr
XR_922888.1:n.3675G>T
XM_011510778.3:c.3538G>T	XP_011509080.1:p.Asp1180Tyr
XM_011510779.2:c.3538G>T	XP_011509081.1:p.Asp1180Tyr
XM_011510780.2:c.3535G>T	XP_011509082.1:p.Asp1179Tyr
XM_011510781.3:c.3520G>T	XP_011509083.1:p.Asp1174Tyr
XM_011510782.3:c.3538G>T	XP_011509084.1:p.Asp1180Tyr
XM_011510783.3:c.3370G>T	XP_011509085.1:p.Asp1124Tyr
XM_011510784.2:c.3367G>T	XP_011509086.1:p.Asp1123Tyr
XM_011510785.3:c.3352G>T	XP_011509087.1:p.Asp1118Tyr
XM_011510786.3:c.3247G>T	XP_011509088.1:p.Asp1083Tyr
XM_011510789.2:c.3061G>T	XP_011509091.1:p.Asp1021Tyr
XM_011510792.3:c.3538G>T	XP_011509094.1:p.Asp1180Tyr
XM_017003568.1:c.3484G>T	XP_016859057.1:p.Asp1162Tyr
XM_017003569.1:c.3316G>T	XP_016859058.1:p.Asp1106Tyr
XM_017003570.1:c.3043G>T	XP_016859059.1:p.Asp1015Tyr
XM_017003571.1:c.2893G>T	XP_016859060.1:p.Asp965Tyr
XM_017003572.1:c.2545G>T	XP_016859061.1:p.Asp849Tyr
XM_017003573.1:c.2545G>T	XP_016859062.1:p.Asp849Tyr
XM_017003574.1:c.2545G>T	XP_016859063.1:p.Asp849Tyr
NM_015040.4:c.3502G>T MANE Select	NP_055855.2:p.Asp1168Tyr