Canonical Allele Identifier: CA350115560

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326256-G-T
• MyVariant Identifiers: chr2:g.209190980G>T (hg19) ; chr2:g.208326256G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326256G>T , CM000664.2:g.208326256G>T	GRCh38
NC_000002.11:g.209190980G>T , CM000664.1:g.209190980G>T	GRCh37
NC_000002.10:g.208899225G>T	NCBI36
NG_021188.1:g.64990G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3445G>T MANE Select	ENSP00000264380.4:p.Gly1149Cys
ENST00000264380.8:c.3445G>T	ENSP00000264380.4:p.Gly1149Cys
ENST00000452564.1:c.3277G>T	ENSP00000405736.1:p.Gly1093Cys
NM_015040.3:c.3445G>T	NP_055855.2:p.Gly1149Cys
XM_011510778.1:c.3481G>T	XP_011509080.1:p.Gly1161Cys
XM_011510779.1:c.3481G>T	XP_011509081.1:p.Gly1161Cys
XM_011510780.1:c.3478G>T	XP_011509082.1:p.Gly1160Cys
XM_011510781.1:c.3463G>T	XP_011509083.1:p.Gly1155Cys
XM_011510782.1:c.3481G>T	XP_011509084.1:p.Gly1161Cys
XM_011510783.1:c.3313G>T	XP_011509085.1:p.Gly1105Cys
XM_011510784.1:c.3310G>T	XP_011509086.1:p.Gly1104Cys
XM_011510785.1:c.3295G>T	XP_011509087.1:p.Gly1099Cys
XM_011510786.1:c.3190G>T	XP_011509088.1:p.Gly1064Cys
XM_011510787.1:c.3187G>T	XP_011509089.1:p.Gly1063Cys
XM_011510788.1:c.3154G>T	XP_011509090.1:p.Gly1052Cys
XM_011510789.1:c.3004G>T	XP_011509091.1:p.Gly1002Cys
XM_011510790.1:c.2488G>T	XP_011509092.1:p.Gly830Cys
XM_011510791.1:c.2488G>T	XP_011509093.1:p.Gly830Cys
XM_011510792.1:c.3481G>T	XP_011509094.1:p.Gly1161Cys
XR_922888.1:n.3618G>T
XM_011510778.3:c.3481G>T	XP_011509080.1:p.Gly1161Cys
XM_011510779.2:c.3481G>T	XP_011509081.1:p.Gly1161Cys
XM_011510780.2:c.3478G>T	XP_011509082.1:p.Gly1160Cys
XM_011510781.3:c.3463G>T	XP_011509083.1:p.Gly1155Cys
XM_011510782.3:c.3481G>T	XP_011509084.1:p.Gly1161Cys
XM_011510783.3:c.3313G>T	XP_011509085.1:p.Gly1105Cys
XM_011510784.2:c.3310G>T	XP_011509086.1:p.Gly1104Cys
XM_011510785.3:c.3295G>T	XP_011509087.1:p.Gly1099Cys
XM_011510786.3:c.3190G>T	XP_011509088.1:p.Gly1064Cys
XM_011510789.2:c.3004G>T	XP_011509091.1:p.Gly1002Cys
XM_011510792.3:c.3481G>T	XP_011509094.1:p.Gly1161Cys
XM_017003568.1:c.3427G>T	XP_016859057.1:p.Gly1143Cys
XM_017003569.1:c.3259G>T	XP_016859058.1:p.Gly1087Cys
XM_017003570.1:c.2986G>T	XP_016859059.1:p.Gly996Cys
XM_017003571.1:c.2836G>T	XP_016859060.1:p.Gly946Cys
XM_017003572.1:c.2488G>T	XP_016859061.1:p.Gly830Cys
XM_017003573.1:c.2488G>T	XP_016859062.1:p.Gly830Cys
XM_017003574.1:c.2488G>T	XP_016859063.1:p.Gly830Cys
NM_015040.4:c.3445G>T MANE Select	NP_055855.2:p.Gly1149Cys