Canonical Allele Identifier: CA350115542

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs1483452600
• gnomAD v2: 2-209190973-G-T
• gnomAD v4: 2-208326249-G-T
• MyVariant Identifiers: chr2:g.209190973G>T (hg19) ; chr2:g.208326249G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326249G>T , CM000664.2:g.208326249G>T	GRCh38
NC_000002.11:g.209190973G>T , CM000664.1:g.209190973G>T	GRCh37
NC_000002.10:g.208899218G>T	NCBI36
NG_021188.1:g.64983G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3438G>T MANE Select	ENSP00000264380.4:p.Gln1146His
ENST00000264380.8:c.3438G>T	ENSP00000264380.4:p.Gln1146His
ENST00000452564.1:c.3270G>T	ENSP00000405736.1:p.Gln1090His
NM_015040.3:c.3438G>T	NP_055855.2:p.Gln1146His
XM_011510778.1:c.3474G>T	XP_011509080.1:p.Gln1158His
XM_011510779.1:c.3474G>T	XP_011509081.1:p.Gln1158His
XM_011510780.1:c.3471G>T	XP_011509082.1:p.Gln1157His
XM_011510781.1:c.3456G>T	XP_011509083.1:p.Gln1152His
XM_011510782.1:c.3474G>T	XP_011509084.1:p.Gln1158His
XM_011510783.1:c.3306G>T	XP_011509085.1:p.Gln1102His
XM_011510784.1:c.3303G>T	XP_011509086.1:p.Gln1101His
XM_011510785.1:c.3288G>T	XP_011509087.1:p.Gln1096His
XM_011510786.1:c.3183G>T	XP_011509088.1:p.Gln1061His
XM_011510787.1:c.3180G>T	XP_011509089.1:p.Gln1060His
XM_011510788.1:c.3147G>T	XP_011509090.1:p.Gln1049His
XM_011510789.1:c.2997G>T	XP_011509091.1:p.Gln999His
XM_011510790.1:c.2481G>T	XP_011509092.1:p.Gln827His
XM_011510791.1:c.2481G>T	XP_011509093.1:p.Gln827His
XM_011510792.1:c.3474G>T	XP_011509094.1:p.Gln1158His
XR_922888.1:n.3611G>T
XM_011510778.3:c.3474G>T	XP_011509080.1:p.Gln1158His
XM_011510779.2:c.3474G>T	XP_011509081.1:p.Gln1158His
XM_011510780.2:c.3471G>T	XP_011509082.1:p.Gln1157His
XM_011510781.3:c.3456G>T	XP_011509083.1:p.Gln1152His
XM_011510782.3:c.3474G>T	XP_011509084.1:p.Gln1158His
XM_011510783.3:c.3306G>T	XP_011509085.1:p.Gln1102His
XM_011510784.2:c.3303G>T	XP_011509086.1:p.Gln1101His
XM_011510785.3:c.3288G>T	XP_011509087.1:p.Gln1096His
XM_011510786.3:c.3183G>T	XP_011509088.1:p.Gln1061His
XM_011510789.2:c.2997G>T	XP_011509091.1:p.Gln999His
XM_011510792.3:c.3474G>T	XP_011509094.1:p.Gln1158His
XM_017003568.1:c.3420G>T	XP_016859057.1:p.Gln1140His
XM_017003569.1:c.3252G>T	XP_016859058.1:p.Gln1084His
XM_017003570.1:c.2979G>T	XP_016859059.1:p.Gln993His
XM_017003571.1:c.2829G>T	XP_016859060.1:p.Gln943His
XM_017003572.1:c.2481G>T	XP_016859061.1:p.Gln827His
XM_017003573.1:c.2481G>T	XP_016859062.1:p.Gln827His
XM_017003574.1:c.2481G>T	XP_016859063.1:p.Gln827His
NM_015040.4:c.3438G>T MANE Select	NP_055855.2:p.Gln1146His