Canonical Allele Identifier: CA350115748

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs1346096494
• gnomAD v4: 2-208326344-G-A
• MyVariant Identifiers: chr2:g.209191068G>A (hg19) ; chr2:g.208326344G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326344G>A , CM000664.2:g.208326344G>A	GRCh38
NC_000002.11:g.209191068G>A , CM000664.1:g.209191068G>A	GRCh37
NC_000002.10:g.208899313G>A	NCBI36
NG_021188.1:g.65078G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3533G>A MANE Select	ENSP00000264380.4:p.Ser1178Asn
ENST00000264380.8:c.3533G>A	ENSP00000264380.4:p.Ser1178Asn
ENST00000452564.1:c.3365G>A	ENSP00000405736.1:p.Ser1122Asn
NM_015040.3:c.3533G>A	NP_055855.2:p.Ser1178Asn
XM_011510778.1:c.3569G>A	XP_011509080.1:p.Ser1190Asn
XM_011510779.1:c.3569G>A	XP_011509081.1:p.Ser1190Asn
XM_011510780.1:c.3566G>A	XP_011509082.1:p.Ser1189Asn
XM_011510781.1:c.3551G>A	XP_011509083.1:p.Ser1184Asn
XM_011510782.1:c.3569G>A	XP_011509084.1:p.Ser1190Asn
XM_011510783.1:c.3401G>A	XP_011509085.1:p.Ser1134Asn
XM_011510784.1:c.3398G>A	XP_011509086.1:p.Ser1133Asn
XM_011510785.1:c.3383G>A	XP_011509087.1:p.Ser1128Asn
XM_011510786.1:c.3278G>A	XP_011509088.1:p.Ser1093Asn
XM_011510787.1:c.3275G>A	XP_011509089.1:p.Ser1092Asn
XM_011510788.1:c.3242G>A	XP_011509090.1:p.Ser1081Asn
XM_011510789.1:c.3092G>A	XP_011509091.1:p.Ser1031Asn
XM_011510790.1:c.2576G>A	XP_011509092.1:p.Ser859Asn
XM_011510791.1:c.2576G>A	XP_011509093.1:p.Ser859Asn
XM_011510792.1:c.3569G>A	XP_011509094.1:p.Ser1190Asn
XR_922888.1:n.3706G>A
XM_011510778.3:c.3569G>A	XP_011509080.1:p.Ser1190Asn
XM_011510779.2:c.3569G>A	XP_011509081.1:p.Ser1190Asn
XM_011510780.2:c.3566G>A	XP_011509082.1:p.Ser1189Asn
XM_011510781.3:c.3551G>A	XP_011509083.1:p.Ser1184Asn
XM_011510782.3:c.3569G>A	XP_011509084.1:p.Ser1190Asn
XM_011510783.3:c.3401G>A	XP_011509085.1:p.Ser1134Asn
XM_011510784.2:c.3398G>A	XP_011509086.1:p.Ser1133Asn
XM_011510785.3:c.3383G>A	XP_011509087.1:p.Ser1128Asn
XM_011510786.3:c.3278G>A	XP_011509088.1:p.Ser1093Asn
XM_011510789.2:c.3092G>A	XP_011509091.1:p.Ser1031Asn
XM_011510792.3:c.3569G>A	XP_011509094.1:p.Ser1190Asn
XM_017003568.1:c.3515G>A	XP_016859057.1:p.Ser1172Asn
XM_017003569.1:c.3347G>A	XP_016859058.1:p.Ser1116Asn
XM_017003570.1:c.3074G>A	XP_016859059.1:p.Ser1025Asn
XM_017003571.1:c.2924G>A	XP_016859060.1:p.Ser975Asn
XM_017003572.1:c.2576G>A	XP_016859061.1:p.Ser859Asn
XM_017003573.1:c.2576G>A	XP_016859062.1:p.Ser859Asn
XM_017003574.1:c.2576G>A	XP_016859063.1:p.Ser859Asn
NM_015040.4:c.3533G>A MANE Select	NP_055855.2:p.Ser1178Asn