Canonical Allele Identifier: CA2080032

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs750656442
• ExAC: 2:209190964 C / T
• gnomAD v2: 2-209190964-C-T
• gnomAD v3: 2-208326240-C-T
• gnomAD v4: 2-208326240-C-T
• MyVariant Identifiers: chr2:g.209190964C>T (hg19) ; chr2:g.208326240C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326240C>T , CM000664.2:g.208326240C>T	GRCh38
NC_000002.11:g.209190964C>T , CM000664.1:g.209190964C>T	GRCh37
NC_000002.10:g.208899209C>T	NCBI36
NG_021188.1:g.64974C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3429C>T MANE Select	ENSP00000264380.4:p.Gly1143=
ENST00000264380.8:c.3429C>T	ENSP00000264380.4:p.Gly1143=
ENST00000452564.1:c.3261C>T	ENSP00000405736.1:p.Gly1087=
NM_015040.3:c.3429C>T	NP_055855.2:p.Gly1143=
XM_011510778.1:c.3465C>T	XP_011509080.1:p.Gly1155=
XM_011510779.1:c.3465C>T	XP_011509081.1:p.Gly1155=
XM_011510780.1:c.3462C>T	XP_011509082.1:p.Gly1154=
XM_011510781.1:c.3447C>T	XP_011509083.1:p.Gly1149=
XM_011510782.1:c.3465C>T	XP_011509084.1:p.Gly1155=
XM_011510783.1:c.3297C>T	XP_011509085.1:p.Gly1099=
XM_011510784.1:c.3294C>T	XP_011509086.1:p.Gly1098=
XM_011510785.1:c.3279C>T	XP_011509087.1:p.Gly1093=
XM_011510786.1:c.3174C>T	XP_011509088.1:p.Gly1058=
XM_011510787.1:c.3171C>T	XP_011509089.1:p.Gly1057=
XM_011510788.1:c.3138C>T	XP_011509090.1:p.Gly1046=
XM_011510789.1:c.2988C>T	XP_011509091.1:p.Gly996=
XM_011510790.1:c.2472C>T	XP_011509092.1:p.Gly824=
XM_011510791.1:c.2472C>T	XP_011509093.1:p.Gly824=
XM_011510792.1:c.3465C>T	XP_011509094.1:p.Gly1155=
XR_922888.1:n.3602C>T
XM_011510778.3:c.3465C>T	XP_011509080.1:p.Gly1155=
XM_011510779.2:c.3465C>T	XP_011509081.1:p.Gly1155=
XM_011510780.2:c.3462C>T	XP_011509082.1:p.Gly1154=
XM_011510781.3:c.3447C>T	XP_011509083.1:p.Gly1149=
XM_011510782.3:c.3465C>T	XP_011509084.1:p.Gly1155=
XM_011510783.3:c.3297C>T	XP_011509085.1:p.Gly1099=
XM_011510784.2:c.3294C>T	XP_011509086.1:p.Gly1098=
XM_011510785.3:c.3279C>T	XP_011509087.1:p.Gly1093=
XM_011510786.3:c.3174C>T	XP_011509088.1:p.Gly1058=
XM_011510789.2:c.2988C>T	XP_011509091.1:p.Gly996=
XM_011510792.3:c.3465C>T	XP_011509094.1:p.Gly1155=
XM_017003568.1:c.3411C>T	XP_016859057.1:p.Gly1137=
XM_017003569.1:c.3243C>T	XP_016859058.1:p.Gly1081=
XM_017003570.1:c.2970C>T	XP_016859059.1:p.Gly990=
XM_017003571.1:c.2820C>T	XP_016859060.1:p.Gly940=
XM_017003572.1:c.2472C>T	XP_016859061.1:p.Gly824=
XM_017003573.1:c.2472C>T	XP_016859062.1:p.Gly824=
XM_017003574.1:c.2472C>T	XP_016859063.1:p.Gly824=
NM_015040.4:c.3429C>T MANE Select	NP_055855.2:p.Gly1143=