Canonical Allele Identifier: CA64596672

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs868605794
• MyVariant Identifiers: chr2:g.209190932C>A (hg19) ; chr2:g.208326208C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326208C>A , CM000664.2:g.208326208C>A	GRCh38
NC_000002.11:g.209190932C>A , CM000664.1:g.209190932C>A	GRCh37
NC_000002.10:g.208899177C>A	NCBI36
NG_021188.1:g.64942C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3397C>A MANE Select	ENSP00000264380.4:p.Leu1133Ile
ENST00000264380.8:c.3397C>A	ENSP00000264380.4:p.Leu1133Ile
ENST00000452564.1:c.3229C>A	ENSP00000405736.1:p.Leu1077Ile
NM_015040.3:c.3397C>A	NP_055855.2:p.Leu1133Ile
XM_011510778.1:c.3433C>A	XP_011509080.1:p.Leu1145Ile
XM_011510779.1:c.3433C>A	XP_011509081.1:p.Leu1145Ile
XM_011510780.1:c.3430C>A	XP_011509082.1:p.Leu1144Ile
XM_011510781.1:c.3415C>A	XP_011509083.1:p.Leu1139Ile
XM_011510782.1:c.3433C>A	XP_011509084.1:p.Leu1145Ile
XM_011510783.1:c.3265C>A	XP_011509085.1:p.Leu1089Ile
XM_011510784.1:c.3262C>A	XP_011509086.1:p.Leu1088Ile
XM_011510785.1:c.3247C>A	XP_011509087.1:p.Leu1083Ile
XM_011510786.1:c.3142C>A	XP_011509088.1:p.Leu1048Ile
XM_011510787.1:c.3139C>A	XP_011509089.1:p.Leu1047Ile
XM_011510788.1:c.3106C>A	XP_011509090.1:p.Leu1036Ile
XM_011510789.1:c.2956C>A	XP_011509091.1:p.Leu986Ile
XM_011510790.1:c.2440C>A	XP_011509092.1:p.Leu814Ile
XM_011510791.1:c.2440C>A	XP_011509093.1:p.Leu814Ile
XM_011510792.1:c.3433C>A	XP_011509094.1:p.Leu1145Ile
XR_922888.1:n.3570C>A
XM_011510778.3:c.3433C>A	XP_011509080.1:p.Leu1145Ile
XM_011510779.2:c.3433C>A	XP_011509081.1:p.Leu1145Ile
XM_011510780.2:c.3430C>A	XP_011509082.1:p.Leu1144Ile
XM_011510781.3:c.3415C>A	XP_011509083.1:p.Leu1139Ile
XM_011510782.3:c.3433C>A	XP_011509084.1:p.Leu1145Ile
XM_011510783.3:c.3265C>A	XP_011509085.1:p.Leu1089Ile
XM_011510784.2:c.3262C>A	XP_011509086.1:p.Leu1088Ile
XM_011510785.3:c.3247C>A	XP_011509087.1:p.Leu1083Ile
XM_011510786.3:c.3142C>A	XP_011509088.1:p.Leu1048Ile
XM_011510789.2:c.2956C>A	XP_011509091.1:p.Leu986Ile
XM_011510792.3:c.3433C>A	XP_011509094.1:p.Leu1145Ile
XM_017003568.1:c.3379C>A	XP_016859057.1:p.Leu1127Ile
XM_017003569.1:c.3211C>A	XP_016859058.1:p.Leu1071Ile
XM_017003570.1:c.2938C>A	XP_016859059.1:p.Leu980Ile
XM_017003571.1:c.2788C>A	XP_016859060.1:p.Leu930Ile
XM_017003572.1:c.2440C>A	XP_016859061.1:p.Leu814Ile
XM_017003573.1:c.2440C>A	XP_016859062.1:p.Leu814Ile
XM_017003574.1:c.2440C>A	XP_016859063.1:p.Leu814Ile
NM_015040.4:c.3397C>A MANE Select	NP_055855.2:p.Leu1133Ile