Canonical Allele Identifier: CA350115612

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191005C>A (hg19) ; chr2:g.208326281C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326281C>A , CM000664.2:g.208326281C>A	GRCh38
NC_000002.11:g.209191005C>A , CM000664.1:g.209191005C>A	GRCh37
NC_000002.10:g.208899250C>A	NCBI36
NG_021188.1:g.65015C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3470C>A MANE Select	ENSP00000264380.4:p.Ala1157Asp
ENST00000264380.8:c.3470C>A	ENSP00000264380.4:p.Ala1157Asp
ENST00000452564.1:c.3302C>A	ENSP00000405736.1:p.Ala1101Asp
NM_015040.3:c.3470C>A	NP_055855.2:p.Ala1157Asp
XM_011510778.1:c.3506C>A	XP_011509080.1:p.Ala1169Asp
XM_011510779.1:c.3506C>A	XP_011509081.1:p.Ala1169Asp
XM_011510780.1:c.3503C>A	XP_011509082.1:p.Ala1168Asp
XM_011510781.1:c.3488C>A	XP_011509083.1:p.Ala1163Asp
XM_011510782.1:c.3506C>A	XP_011509084.1:p.Ala1169Asp
XM_011510783.1:c.3338C>A	XP_011509085.1:p.Ala1113Asp
XM_011510784.1:c.3335C>A	XP_011509086.1:p.Ala1112Asp
XM_011510785.1:c.3320C>A	XP_011509087.1:p.Ala1107Asp
XM_011510786.1:c.3215C>A	XP_011509088.1:p.Ala1072Asp
XM_011510787.1:c.3212C>A	XP_011509089.1:p.Ala1071Asp
XM_011510788.1:c.3179C>A	XP_011509090.1:p.Ala1060Asp
XM_011510789.1:c.3029C>A	XP_011509091.1:p.Ala1010Asp
XM_011510790.1:c.2513C>A	XP_011509092.1:p.Ala838Asp
XM_011510791.1:c.2513C>A	XP_011509093.1:p.Ala838Asp
XM_011510792.1:c.3506C>A	XP_011509094.1:p.Ala1169Asp
XR_922888.1:n.3643C>A
XM_011510778.3:c.3506C>A	XP_011509080.1:p.Ala1169Asp
XM_011510779.2:c.3506C>A	XP_011509081.1:p.Ala1169Asp
XM_011510780.2:c.3503C>A	XP_011509082.1:p.Ala1168Asp
XM_011510781.3:c.3488C>A	XP_011509083.1:p.Ala1163Asp
XM_011510782.3:c.3506C>A	XP_011509084.1:p.Ala1169Asp
XM_011510783.3:c.3338C>A	XP_011509085.1:p.Ala1113Asp
XM_011510784.2:c.3335C>A	XP_011509086.1:p.Ala1112Asp
XM_011510785.3:c.3320C>A	XP_011509087.1:p.Ala1107Asp
XM_011510786.3:c.3215C>A	XP_011509088.1:p.Ala1072Asp
XM_011510789.2:c.3029C>A	XP_011509091.1:p.Ala1010Asp
XM_011510792.3:c.3506C>A	XP_011509094.1:p.Ala1169Asp
XM_017003568.1:c.3452C>A	XP_016859057.1:p.Ala1151Asp
XM_017003569.1:c.3284C>A	XP_016859058.1:p.Ala1095Asp
XM_017003570.1:c.3011C>A	XP_016859059.1:p.Ala1004Asp
XM_017003571.1:c.2861C>A	XP_016859060.1:p.Ala954Asp
XM_017003572.1:c.2513C>A	XP_016859061.1:p.Ala838Asp
XM_017003573.1:c.2513C>A	XP_016859062.1:p.Ala838Asp
XM_017003574.1:c.2513C>A	XP_016859063.1:p.Ala838Asp
NM_015040.4:c.3470C>A MANE Select	NP_055855.2:p.Ala1157Asp