Canonical Allele Identifier: CA2080061

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs751509435
• ExAC: 2:209191086 C / T
• gnomAD v2: 2-209191086-C-T
• gnomAD v4: 2-208326362-C-T
• MyVariant Identifiers: chr2:g.209191086C>T (hg19) ; chr2:g.208326362C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3551C>T MANE Select	ENSP00000264380.4:p.Ser1184Leu
ENST00000264380.8:c.3551C>T	ENSP00000264380.4:p.Ser1184Leu
ENST00000452564.1:c.3383C>T	ENSP00000405736.1:p.Ser1128Leu
NM_015040.3:c.3551C>T	NP_055855.2:p.Ser1184Leu
XM_011510778.1:c.3587C>T	XP_011509080.1:p.Ser1196Leu
XM_011510779.1:c.3587C>T	XP_011509081.1:p.Ser1196Leu
XM_011510780.1:c.3584C>T	XP_011509082.1:p.Ser1195Leu
XM_011510781.1:c.3569C>T	XP_011509083.1:p.Ser1190Leu
XM_011510782.1:c.3587C>T	XP_011509084.1:p.Ser1196Leu
XM_011510783.1:c.3419C>T	XP_011509085.1:p.Ser1140Leu
XM_011510784.1:c.3416C>T	XP_011509086.1:p.Ser1139Leu
XM_011510785.1:c.3401C>T	XP_011509087.1:p.Ser1134Leu
XM_011510786.1:c.3296C>T	XP_011509088.1:p.Ser1099Leu
XM_011510787.1:c.3293C>T	XP_011509089.1:p.Ser1098Leu
XM_011510788.1:c.3260C>T	XP_011509090.1:p.Ser1087Leu
XM_011510789.1:c.3110C>T	XP_011509091.1:p.Ser1037Leu
XM_011510790.1:c.2594C>T	XP_011509092.1:p.Ser865Leu
XM_011510791.1:c.2594C>T	XP_011509093.1:p.Ser865Leu
XM_011510792.1:c.3587C>T	XP_011509094.1:p.Ser1196Leu
XR_922888.1:n.3724C>T
XM_011510778.3:c.3587C>T	XP_011509080.1:p.Ser1196Leu
XM_011510779.2:c.3587C>T	XP_011509081.1:p.Ser1196Leu
XM_011510780.2:c.3584C>T	XP_011509082.1:p.Ser1195Leu
XM_011510781.3:c.3569C>T	XP_011509083.1:p.Ser1190Leu
XM_011510782.3:c.3587C>T	XP_011509084.1:p.Ser1196Leu
XM_011510783.3:c.3419C>T	XP_011509085.1:p.Ser1140Leu
XM_011510784.2:c.3416C>T	XP_011509086.1:p.Ser1139Leu
XM_011510785.3:c.3401C>T	XP_011509087.1:p.Ser1134Leu
XM_011510786.3:c.3296C>T	XP_011509088.1:p.Ser1099Leu
XM_011510789.2:c.3110C>T	XP_011509091.1:p.Ser1037Leu
XM_011510792.3:c.3587C>T	XP_011509094.1:p.Ser1196Leu
XM_017003568.1:c.3533C>T	XP_016859057.1:p.Ser1178Leu
XM_017003569.1:c.3365C>T	XP_016859058.1:p.Ser1122Leu
XM_017003570.1:c.3092C>T	XP_016859059.1:p.Ser1031Leu
XM_017003571.1:c.2942C>T	XP_016859060.1:p.Ser981Leu
XM_017003572.1:c.2594C>T	XP_016859061.1:p.Ser865Leu
XM_017003573.1:c.2594C>T	XP_016859062.1:p.Ser865Leu
XM_017003574.1:c.2594C>T	XP_016859063.1:p.Ser865Leu
NM_015040.4:c.3551C>T MANE Select	NP_055855.2:p.Ser1184Leu