Canonical Allele Identifier: CA350115658

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326302-C-T
• MyVariant Identifiers: chr2:g.209191026C>T (hg19) ; chr2:g.208326302C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326302C>T , CM000664.2:g.208326302C>T	GRCh38
NC_000002.11:g.209191026C>T , CM000664.1:g.209191026C>T	GRCh37
NC_000002.10:g.208899271C>T	NCBI36
NG_021188.1:g.65036C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3491C>T MANE Select	ENSP00000264380.4:p.Pro1164Leu
ENST00000264380.8:c.3491C>T	ENSP00000264380.4:p.Pro1164Leu
ENST00000452564.1:c.3323C>T	ENSP00000405736.1:p.Pro1108Leu
NM_015040.3:c.3491C>T	NP_055855.2:p.Pro1164Leu
XM_011510778.1:c.3527C>T	XP_011509080.1:p.Pro1176Leu
XM_011510779.1:c.3527C>T	XP_011509081.1:p.Pro1176Leu
XM_011510780.1:c.3524C>T	XP_011509082.1:p.Pro1175Leu
XM_011510781.1:c.3509C>T	XP_011509083.1:p.Pro1170Leu
XM_011510782.1:c.3527C>T	XP_011509084.1:p.Pro1176Leu
XM_011510783.1:c.3359C>T	XP_011509085.1:p.Pro1120Leu
XM_011510784.1:c.3356C>T	XP_011509086.1:p.Pro1119Leu
XM_011510785.1:c.3341C>T	XP_011509087.1:p.Pro1114Leu
XM_011510786.1:c.3236C>T	XP_011509088.1:p.Pro1079Leu
XM_011510787.1:c.3233C>T	XP_011509089.1:p.Pro1078Leu
XM_011510788.1:c.3200C>T	XP_011509090.1:p.Pro1067Leu
XM_011510789.1:c.3050C>T	XP_011509091.1:p.Pro1017Leu
XM_011510790.1:c.2534C>T	XP_011509092.1:p.Pro845Leu
XM_011510791.1:c.2534C>T	XP_011509093.1:p.Pro845Leu
XM_011510792.1:c.3527C>T	XP_011509094.1:p.Pro1176Leu
XR_922888.1:n.3664C>T
XM_011510778.3:c.3527C>T	XP_011509080.1:p.Pro1176Leu
XM_011510779.2:c.3527C>T	XP_011509081.1:p.Pro1176Leu
XM_011510780.2:c.3524C>T	XP_011509082.1:p.Pro1175Leu
XM_011510781.3:c.3509C>T	XP_011509083.1:p.Pro1170Leu
XM_011510782.3:c.3527C>T	XP_011509084.1:p.Pro1176Leu
XM_011510783.3:c.3359C>T	XP_011509085.1:p.Pro1120Leu
XM_011510784.2:c.3356C>T	XP_011509086.1:p.Pro1119Leu
XM_011510785.3:c.3341C>T	XP_011509087.1:p.Pro1114Leu
XM_011510786.3:c.3236C>T	XP_011509088.1:p.Pro1079Leu
XM_011510789.2:c.3050C>T	XP_011509091.1:p.Pro1017Leu
XM_011510792.3:c.3527C>T	XP_011509094.1:p.Pro1176Leu
XM_017003568.1:c.3473C>T	XP_016859057.1:p.Pro1158Leu
XM_017003569.1:c.3305C>T	XP_016859058.1:p.Pro1102Leu
XM_017003570.1:c.3032C>T	XP_016859059.1:p.Pro1011Leu
XM_017003571.1:c.2882C>T	XP_016859060.1:p.Pro961Leu
XM_017003572.1:c.2534C>T	XP_016859061.1:p.Pro845Leu
XM_017003573.1:c.2534C>T	XP_016859062.1:p.Pro845Leu
XM_017003574.1:c.2534C>T	XP_016859063.1:p.Pro845Leu
NM_015040.4:c.3491C>T MANE Select	NP_055855.2:p.Pro1164Leu