Canonical Allele Identifier: CA2080040

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs753928946
• ExAC: 2:209190995 G / A
• gnomAD v2: 2-209190995-G-A
• gnomAD v3: 2-208326271-G-A
• gnomAD v4: 2-208326271-G-A
• COSMIC: COSM5494409
• MyVariant Identifiers: chr2:g.209190995G>A (hg19) ; chr2:g.208326271G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326271G>A , CM000664.2:g.208326271G>A	GRCh38
NC_000002.11:g.209190995G>A , CM000664.1:g.209190995G>A	GRCh37
NC_000002.10:g.208899240G>A	NCBI36
NG_021188.1:g.65005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3460G>A MANE Select	ENSP00000264380.4:p.Asp1154Asn
ENST00000264380.8:c.3460G>A	ENSP00000264380.4:p.Asp1154Asn
ENST00000452564.1:c.3292G>A	ENSP00000405736.1:p.Asp1098Asn
NM_015040.3:c.3460G>A	NP_055855.2:p.Asp1154Asn
XM_011510778.1:c.3496G>A	XP_011509080.1:p.Asp1166Asn
XM_011510779.1:c.3496G>A	XP_011509081.1:p.Asp1166Asn
XM_011510780.1:c.3493G>A	XP_011509082.1:p.Asp1165Asn
XM_011510781.1:c.3478G>A	XP_011509083.1:p.Asp1160Asn
XM_011510782.1:c.3496G>A	XP_011509084.1:p.Asp1166Asn
XM_011510783.1:c.3328G>A	XP_011509085.1:p.Asp1110Asn
XM_011510784.1:c.3325G>A	XP_011509086.1:p.Asp1109Asn
XM_011510785.1:c.3310G>A	XP_011509087.1:p.Asp1104Asn
XM_011510786.1:c.3205G>A	XP_011509088.1:p.Asp1069Asn
XM_011510787.1:c.3202G>A	XP_011509089.1:p.Asp1068Asn
XM_011510788.1:c.3169G>A	XP_011509090.1:p.Asp1057Asn
XM_011510789.1:c.3019G>A	XP_011509091.1:p.Asp1007Asn
XM_011510790.1:c.2503G>A	XP_011509092.1:p.Asp835Asn
XM_011510791.1:c.2503G>A	XP_011509093.1:p.Asp835Asn
XM_011510792.1:c.3496G>A	XP_011509094.1:p.Asp1166Asn
XR_922888.1:n.3633G>A
XM_011510778.3:c.3496G>A	XP_011509080.1:p.Asp1166Asn
XM_011510779.2:c.3496G>A	XP_011509081.1:p.Asp1166Asn
XM_011510780.2:c.3493G>A	XP_011509082.1:p.Asp1165Asn
XM_011510781.3:c.3478G>A	XP_011509083.1:p.Asp1160Asn
XM_011510782.3:c.3496G>A	XP_011509084.1:p.Asp1166Asn
XM_011510783.3:c.3328G>A	XP_011509085.1:p.Asp1110Asn
XM_011510784.2:c.3325G>A	XP_011509086.1:p.Asp1109Asn
XM_011510785.3:c.3310G>A	XP_011509087.1:p.Asp1104Asn
XM_011510786.3:c.3205G>A	XP_011509088.1:p.Asp1069Asn
XM_011510789.2:c.3019G>A	XP_011509091.1:p.Asp1007Asn
XM_011510792.3:c.3496G>A	XP_011509094.1:p.Asp1166Asn
XM_017003568.1:c.3442G>A	XP_016859057.1:p.Asp1148Asn
XM_017003569.1:c.3274G>A	XP_016859058.1:p.Asp1092Asn
XM_017003570.1:c.3001G>A	XP_016859059.1:p.Asp1001Asn
XM_017003571.1:c.2851G>A	XP_016859060.1:p.Asp951Asn
XM_017003572.1:c.2503G>A	XP_016859061.1:p.Asp835Asn
XM_017003573.1:c.2503G>A	XP_016859062.1:p.Asp835Asn
XM_017003574.1:c.2503G>A	XP_016859063.1:p.Asp835Asn
NM_015040.4:c.3460G>A MANE Select	NP_055855.2:p.Asp1154Asn