Canonical Allele Identifier: CA350115543

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs1696908296
• gnomAD v4: 2-208326250-A-C
• MyVariant Identifiers: chr2:g.209190974A>C (hg19) ; chr2:g.208326250A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326250A>C , CM000664.2:g.208326250A>C	GRCh38
NC_000002.11:g.209190974A>C , CM000664.1:g.209190974A>C	GRCh37
NC_000002.10:g.208899219A>C	NCBI36
NG_021188.1:g.64984A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3439A>C MANE Select	ENSP00000264380.4:p.Ser1147Arg
ENST00000264380.8:c.3439A>C	ENSP00000264380.4:p.Ser1147Arg
ENST00000452564.1:c.3271A>C	ENSP00000405736.1:p.Ser1091Arg
NM_015040.3:c.3439A>C	NP_055855.2:p.Ser1147Arg
XM_011510778.1:c.3475A>C	XP_011509080.1:p.Ser1159Arg
XM_011510779.1:c.3475A>C	XP_011509081.1:p.Ser1159Arg
XM_011510780.1:c.3472A>C	XP_011509082.1:p.Ser1158Arg
XM_011510781.1:c.3457A>C	XP_011509083.1:p.Ser1153Arg
XM_011510782.1:c.3475A>C	XP_011509084.1:p.Ser1159Arg
XM_011510783.1:c.3307A>C	XP_011509085.1:p.Ser1103Arg
XM_011510784.1:c.3304A>C	XP_011509086.1:p.Ser1102Arg
XM_011510785.1:c.3289A>C	XP_011509087.1:p.Ser1097Arg
XM_011510786.1:c.3184A>C	XP_011509088.1:p.Ser1062Arg
XM_011510787.1:c.3181A>C	XP_011509089.1:p.Ser1061Arg
XM_011510788.1:c.3148A>C	XP_011509090.1:p.Ser1050Arg
XM_011510789.1:c.2998A>C	XP_011509091.1:p.Ser1000Arg
XM_011510790.1:c.2482A>C	XP_011509092.1:p.Ser828Arg
XM_011510791.1:c.2482A>C	XP_011509093.1:p.Ser828Arg
XM_011510792.1:c.3475A>C	XP_011509094.1:p.Ser1159Arg
XR_922888.1:n.3612A>C
XM_011510778.3:c.3475A>C	XP_011509080.1:p.Ser1159Arg
XM_011510779.2:c.3475A>C	XP_011509081.1:p.Ser1159Arg
XM_011510780.2:c.3472A>C	XP_011509082.1:p.Ser1158Arg
XM_011510781.3:c.3457A>C	XP_011509083.1:p.Ser1153Arg
XM_011510782.3:c.3475A>C	XP_011509084.1:p.Ser1159Arg
XM_011510783.3:c.3307A>C	XP_011509085.1:p.Ser1103Arg
XM_011510784.2:c.3304A>C	XP_011509086.1:p.Ser1102Arg
XM_011510785.3:c.3289A>C	XP_011509087.1:p.Ser1097Arg
XM_011510786.3:c.3184A>C	XP_011509088.1:p.Ser1062Arg
XM_011510789.2:c.2998A>C	XP_011509091.1:p.Ser1000Arg
XM_011510792.3:c.3475A>C	XP_011509094.1:p.Ser1159Arg
XM_017003568.1:c.3421A>C	XP_016859057.1:p.Ser1141Arg
XM_017003569.1:c.3253A>C	XP_016859058.1:p.Ser1085Arg
XM_017003570.1:c.2980A>C	XP_016859059.1:p.Ser994Arg
XM_017003571.1:c.2830A>C	XP_016859060.1:p.Ser944Arg
XM_017003572.1:c.2482A>C	XP_016859061.1:p.Ser828Arg
XM_017003573.1:c.2482A>C	XP_016859062.1:p.Ser828Arg
XM_017003574.1:c.2482A>C	XP_016859063.1:p.Ser828Arg
NM_015040.4:c.3439A>C MANE Select	NP_055855.2:p.Ser1147Arg