Canonical Allele Identifier: CA350115548

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs1198934453
• gnomAD v3: 2-208326251-G-T
• gnomAD v4: 2-208326251-G-T
• MyVariant Identifiers: chr2:g.209190975G>T (hg19) ; chr2:g.208326251G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326251G>T , CM000664.2:g.208326251G>T	GRCh38
NC_000002.11:g.209190975G>T , CM000664.1:g.209190975G>T	GRCh37
NC_000002.10:g.208899220G>T	NCBI36
NG_021188.1:g.64985G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3440G>T MANE Select	ENSP00000264380.4:p.Ser1147Ile
ENST00000264380.8:c.3440G>T	ENSP00000264380.4:p.Ser1147Ile
ENST00000452564.1:c.3272G>T	ENSP00000405736.1:p.Ser1091Ile
NM_015040.3:c.3440G>T	NP_055855.2:p.Ser1147Ile
XM_011510778.1:c.3476G>T	XP_011509080.1:p.Ser1159Ile
XM_011510779.1:c.3476G>T	XP_011509081.1:p.Ser1159Ile
XM_011510780.1:c.3473G>T	XP_011509082.1:p.Ser1158Ile
XM_011510781.1:c.3458G>T	XP_011509083.1:p.Ser1153Ile
XM_011510782.1:c.3476G>T	XP_011509084.1:p.Ser1159Ile
XM_011510783.1:c.3308G>T	XP_011509085.1:p.Ser1103Ile
XM_011510784.1:c.3305G>T	XP_011509086.1:p.Ser1102Ile
XM_011510785.1:c.3290G>T	XP_011509087.1:p.Ser1097Ile
XM_011510786.1:c.3185G>T	XP_011509088.1:p.Ser1062Ile
XM_011510787.1:c.3182G>T	XP_011509089.1:p.Ser1061Ile
XM_011510788.1:c.3149G>T	XP_011509090.1:p.Ser1050Ile
XM_011510789.1:c.2999G>T	XP_011509091.1:p.Ser1000Ile
XM_011510790.1:c.2483G>T	XP_011509092.1:p.Ser828Ile
XM_011510791.1:c.2483G>T	XP_011509093.1:p.Ser828Ile
XM_011510792.1:c.3476G>T	XP_011509094.1:p.Ser1159Ile
XR_922888.1:n.3613G>T
XM_011510778.3:c.3476G>T	XP_011509080.1:p.Ser1159Ile
XM_011510779.2:c.3476G>T	XP_011509081.1:p.Ser1159Ile
XM_011510780.2:c.3473G>T	XP_011509082.1:p.Ser1158Ile
XM_011510781.3:c.3458G>T	XP_011509083.1:p.Ser1153Ile
XM_011510782.3:c.3476G>T	XP_011509084.1:p.Ser1159Ile
XM_011510783.3:c.3308G>T	XP_011509085.1:p.Ser1103Ile
XM_011510784.2:c.3305G>T	XP_011509086.1:p.Ser1102Ile
XM_011510785.3:c.3290G>T	XP_011509087.1:p.Ser1097Ile
XM_011510786.3:c.3185G>T	XP_011509088.1:p.Ser1062Ile
XM_011510789.2:c.2999G>T	XP_011509091.1:p.Ser1000Ile
XM_011510792.3:c.3476G>T	XP_011509094.1:p.Ser1159Ile
XM_017003568.1:c.3422G>T	XP_016859057.1:p.Ser1141Ile
XM_017003569.1:c.3254G>T	XP_016859058.1:p.Ser1085Ile
XM_017003570.1:c.2981G>T	XP_016859059.1:p.Ser994Ile
XM_017003571.1:c.2831G>T	XP_016859060.1:p.Ser944Ile
XM_017003572.1:c.2483G>T	XP_016859061.1:p.Ser828Ile
XM_017003573.1:c.2483G>T	XP_016859062.1:p.Ser828Ile
XM_017003574.1:c.2483G>T	XP_016859063.1:p.Ser828Ile
NM_015040.4:c.3440G>T MANE Select	NP_055855.2:p.Ser1147Ile