Canonical Allele Identifier: CA350115517

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs1410039024
• gnomAD v2: 2-209190962-G-T
• gnomAD v4: 2-208326238-G-T
• MyVariant Identifiers: chr2:g.209190962G>T (hg19) ; chr2:g.208326238G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326238G>T , CM000664.2:g.208326238G>T	GRCh38
NC_000002.11:g.209190962G>T , CM000664.1:g.209190962G>T	GRCh37
NC_000002.10:g.208899207G>T	NCBI36
NG_021188.1:g.64972G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3427G>T MANE Select	ENSP00000264380.4:p.Gly1143Cys
ENST00000264380.8:c.3427G>T	ENSP00000264380.4:p.Gly1143Cys
ENST00000452564.1:c.3259G>T	ENSP00000405736.1:p.Gly1087Cys
NM_015040.3:c.3427G>T	NP_055855.2:p.Gly1143Cys
XM_011510778.1:c.3463G>T	XP_011509080.1:p.Gly1155Cys
XM_011510779.1:c.3463G>T	XP_011509081.1:p.Gly1155Cys
XM_011510780.1:c.3460G>T	XP_011509082.1:p.Gly1154Cys
XM_011510781.1:c.3445G>T	XP_011509083.1:p.Gly1149Cys
XM_011510782.1:c.3463G>T	XP_011509084.1:p.Gly1155Cys
XM_011510783.1:c.3295G>T	XP_011509085.1:p.Gly1099Cys
XM_011510784.1:c.3292G>T	XP_011509086.1:p.Gly1098Cys
XM_011510785.1:c.3277G>T	XP_011509087.1:p.Gly1093Cys
XM_011510786.1:c.3172G>T	XP_011509088.1:p.Gly1058Cys
XM_011510787.1:c.3169G>T	XP_011509089.1:p.Gly1057Cys
XM_011510788.1:c.3136G>T	XP_011509090.1:p.Gly1046Cys
XM_011510789.1:c.2986G>T	XP_011509091.1:p.Gly996Cys
XM_011510790.1:c.2470G>T	XP_011509092.1:p.Gly824Cys
XM_011510791.1:c.2470G>T	XP_011509093.1:p.Gly824Cys
XM_011510792.1:c.3463G>T	XP_011509094.1:p.Gly1155Cys
XR_922888.1:n.3600G>T
XM_011510778.3:c.3463G>T	XP_011509080.1:p.Gly1155Cys
XM_011510779.2:c.3463G>T	XP_011509081.1:p.Gly1155Cys
XM_011510780.2:c.3460G>T	XP_011509082.1:p.Gly1154Cys
XM_011510781.3:c.3445G>T	XP_011509083.1:p.Gly1149Cys
XM_011510782.3:c.3463G>T	XP_011509084.1:p.Gly1155Cys
XM_011510783.3:c.3295G>T	XP_011509085.1:p.Gly1099Cys
XM_011510784.2:c.3292G>T	XP_011509086.1:p.Gly1098Cys
XM_011510785.3:c.3277G>T	XP_011509087.1:p.Gly1093Cys
XM_011510786.3:c.3172G>T	XP_011509088.1:p.Gly1058Cys
XM_011510789.2:c.2986G>T	XP_011509091.1:p.Gly996Cys
XM_011510792.3:c.3463G>T	XP_011509094.1:p.Gly1155Cys
XM_017003568.1:c.3409G>T	XP_016859057.1:p.Gly1137Cys
XM_017003569.1:c.3241G>T	XP_016859058.1:p.Gly1081Cys
XM_017003570.1:c.2968G>T	XP_016859059.1:p.Gly990Cys
XM_017003571.1:c.2818G>T	XP_016859060.1:p.Gly940Cys
XM_017003572.1:c.2470G>T	XP_016859061.1:p.Gly824Cys
XM_017003573.1:c.2470G>T	XP_016859062.1:p.Gly824Cys
XM_017003574.1:c.2470G>T	XP_016859063.1:p.Gly824Cys
NM_015040.4:c.3427G>T MANE Select	NP_055855.2:p.Gly1143Cys