Canonical Allele Identifier: CA350115648

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326298-C-T
• MyVariant Identifiers: chr2:g.209191022C>T (hg19) ; chr2:g.208326298C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326298C>T , CM000664.2:g.208326298C>T	GRCh38
NC_000002.11:g.209191022C>T , CM000664.1:g.209191022C>T	GRCh37
NC_000002.10:g.208899267C>T	NCBI36
NG_021188.1:g.65032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3487C>T MANE Select	ENSP00000264380.4:p.Gln1163Ter
ENST00000264380.8:c.3487C>T	ENSP00000264380.4:p.Gln1163Ter
ENST00000452564.1:c.3319C>T	ENSP00000405736.1:p.Gln1107Ter
NM_015040.3:c.3487C>T	NP_055855.2:p.Gln1163Ter
XM_011510778.1:c.3523C>T	XP_011509080.1:p.Gln1175Ter
XM_011510779.1:c.3523C>T	XP_011509081.1:p.Gln1175Ter
XM_011510780.1:c.3520C>T	XP_011509082.1:p.Gln1174Ter
XM_011510781.1:c.3505C>T	XP_011509083.1:p.Gln1169Ter
XM_011510782.1:c.3523C>T	XP_011509084.1:p.Gln1175Ter
XM_011510783.1:c.3355C>T	XP_011509085.1:p.Gln1119Ter
XM_011510784.1:c.3352C>T	XP_011509086.1:p.Gln1118Ter
XM_011510785.1:c.3337C>T	XP_011509087.1:p.Gln1113Ter
XM_011510786.1:c.3232C>T	XP_011509088.1:p.Gln1078Ter
XM_011510787.1:c.3229C>T	XP_011509089.1:p.Gln1077Ter
XM_011510788.1:c.3196C>T	XP_011509090.1:p.Gln1066Ter
XM_011510789.1:c.3046C>T	XP_011509091.1:p.Gln1016Ter
XM_011510790.1:c.2530C>T	XP_011509092.1:p.Gln844Ter
XM_011510791.1:c.2530C>T	XP_011509093.1:p.Gln844Ter
XM_011510792.1:c.3523C>T	XP_011509094.1:p.Gln1175Ter
XR_922888.1:n.3660C>T
XM_011510778.3:c.3523C>T	XP_011509080.1:p.Gln1175Ter
XM_011510779.2:c.3523C>T	XP_011509081.1:p.Gln1175Ter
XM_011510780.2:c.3520C>T	XP_011509082.1:p.Gln1174Ter
XM_011510781.3:c.3505C>T	XP_011509083.1:p.Gln1169Ter
XM_011510782.3:c.3523C>T	XP_011509084.1:p.Gln1175Ter
XM_011510783.3:c.3355C>T	XP_011509085.1:p.Gln1119Ter
XM_011510784.2:c.3352C>T	XP_011509086.1:p.Gln1118Ter
XM_011510785.3:c.3337C>T	XP_011509087.1:p.Gln1113Ter
XM_011510786.3:c.3232C>T	XP_011509088.1:p.Gln1078Ter
XM_011510789.2:c.3046C>T	XP_011509091.1:p.Gln1016Ter
XM_011510792.3:c.3523C>T	XP_011509094.1:p.Gln1175Ter
XM_017003568.1:c.3469C>T	XP_016859057.1:p.Gln1157Ter
XM_017003569.1:c.3301C>T	XP_016859058.1:p.Gln1101Ter
XM_017003570.1:c.3028C>T	XP_016859059.1:p.Gln1010Ter
XM_017003571.1:c.2878C>T	XP_016859060.1:p.Gln960Ter
XM_017003572.1:c.2530C>T	XP_016859061.1:p.Gln844Ter
XM_017003573.1:c.2530C>T	XP_016859062.1:p.Gln844Ter
XM_017003574.1:c.2530C>T	XP_016859063.1:p.Gln844Ter
NM_015040.4:c.3487C>T MANE Select	NP_055855.2:p.Gln1163Ter