Canonical Allele Identifier: CA350115788

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326362-C-A
• MyVariant Identifiers: chr2:g.209191086C>A (hg19) ; chr2:g.208326362C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326362C>A , CM000664.2:g.208326362C>A	GRCh38
NC_000002.11:g.209191086C>A , CM000664.1:g.209191086C>A	GRCh37
NC_000002.10:g.208899331C>A	NCBI36
NG_021188.1:g.65096C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3551C>A MANE Select	ENSP00000264380.4:p.Ser1184Ter
ENST00000264380.8:c.3551C>A	ENSP00000264380.4:p.Ser1184Ter
ENST00000452564.1:c.3383C>A	ENSP00000405736.1:p.Ser1128Ter
NM_015040.3:c.3551C>A	NP_055855.2:p.Ser1184Ter
XM_011510778.1:c.3587C>A	XP_011509080.1:p.Ser1196Ter
XM_011510779.1:c.3587C>A	XP_011509081.1:p.Ser1196Ter
XM_011510780.1:c.3584C>A	XP_011509082.1:p.Ser1195Ter
XM_011510781.1:c.3569C>A	XP_011509083.1:p.Ser1190Ter
XM_011510782.1:c.3587C>A	XP_011509084.1:p.Ser1196Ter
XM_011510783.1:c.3419C>A	XP_011509085.1:p.Ser1140Ter
XM_011510784.1:c.3416C>A	XP_011509086.1:p.Ser1139Ter
XM_011510785.1:c.3401C>A	XP_011509087.1:p.Ser1134Ter
XM_011510786.1:c.3296C>A	XP_011509088.1:p.Ser1099Ter
XM_011510787.1:c.3293C>A	XP_011509089.1:p.Ser1098Ter
XM_011510788.1:c.3260C>A	XP_011509090.1:p.Ser1087Ter
XM_011510789.1:c.3110C>A	XP_011509091.1:p.Ser1037Ter
XM_011510790.1:c.2594C>A	XP_011509092.1:p.Ser865Ter
XM_011510791.1:c.2594C>A	XP_011509093.1:p.Ser865Ter
XM_011510792.1:c.3587C>A	XP_011509094.1:p.Ser1196Ter
XR_922888.1:n.3724C>A
XM_011510778.3:c.3587C>A	XP_011509080.1:p.Ser1196Ter
XM_011510779.2:c.3587C>A	XP_011509081.1:p.Ser1196Ter
XM_011510780.2:c.3584C>A	XP_011509082.1:p.Ser1195Ter
XM_011510781.3:c.3569C>A	XP_011509083.1:p.Ser1190Ter
XM_011510782.3:c.3587C>A	XP_011509084.1:p.Ser1196Ter
XM_011510783.3:c.3419C>A	XP_011509085.1:p.Ser1140Ter
XM_011510784.2:c.3416C>A	XP_011509086.1:p.Ser1139Ter
XM_011510785.3:c.3401C>A	XP_011509087.1:p.Ser1134Ter
XM_011510786.3:c.3296C>A	XP_011509088.1:p.Ser1099Ter
XM_011510789.2:c.3110C>A	XP_011509091.1:p.Ser1037Ter
XM_011510792.3:c.3587C>A	XP_011509094.1:p.Ser1196Ter
XM_017003568.1:c.3533C>A	XP_016859057.1:p.Ser1178Ter
XM_017003569.1:c.3365C>A	XP_016859058.1:p.Ser1122Ter
XM_017003570.1:c.3092C>A	XP_016859059.1:p.Ser1031Ter
XM_017003571.1:c.2942C>A	XP_016859060.1:p.Ser981Ter
XM_017003572.1:c.2594C>A	XP_016859061.1:p.Ser865Ter
XM_017003573.1:c.2594C>A	XP_016859062.1:p.Ser865Ter
XM_017003574.1:c.2594C>A	XP_016859063.1:p.Ser865Ter
NM_015040.4:c.3551C>A MANE Select	NP_055855.2:p.Ser1184Ter