Canonical Allele Identifier: CA350115531

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190969G>A (hg19) ; chr2:g.208326245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326245G>A , CM000664.2:g.208326245G>A	GRCh38
NC_000002.11:g.209190969G>A , CM000664.1:g.209190969G>A	GRCh37
NC_000002.10:g.208899214G>A	NCBI36
NG_021188.1:g.64979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3434G>A MANE Select	ENSP00000264380.4:p.Ser1145Asn
ENST00000264380.8:c.3434G>A	ENSP00000264380.4:p.Ser1145Asn
ENST00000452564.1:c.3266G>A	ENSP00000405736.1:p.Ser1089Asn
NM_015040.3:c.3434G>A	NP_055855.2:p.Ser1145Asn
XM_011510778.1:c.3470G>A	XP_011509080.1:p.Ser1157Asn
XM_011510779.1:c.3470G>A	XP_011509081.1:p.Ser1157Asn
XM_011510780.1:c.3467G>A	XP_011509082.1:p.Ser1156Asn
XM_011510781.1:c.3452G>A	XP_011509083.1:p.Ser1151Asn
XM_011510782.1:c.3470G>A	XP_011509084.1:p.Ser1157Asn
XM_011510783.1:c.3302G>A	XP_011509085.1:p.Ser1101Asn
XM_011510784.1:c.3299G>A	XP_011509086.1:p.Ser1100Asn
XM_011510785.1:c.3284G>A	XP_011509087.1:p.Ser1095Asn
XM_011510786.1:c.3179G>A	XP_011509088.1:p.Ser1060Asn
XM_011510787.1:c.3176G>A	XP_011509089.1:p.Ser1059Asn
XM_011510788.1:c.3143G>A	XP_011509090.1:p.Ser1048Asn
XM_011510789.1:c.2993G>A	XP_011509091.1:p.Ser998Asn
XM_011510790.1:c.2477G>A	XP_011509092.1:p.Ser826Asn
XM_011510791.1:c.2477G>A	XP_011509093.1:p.Ser826Asn
XM_011510792.1:c.3470G>A	XP_011509094.1:p.Ser1157Asn
XR_922888.1:n.3607G>A
XM_011510778.3:c.3470G>A	XP_011509080.1:p.Ser1157Asn
XM_011510779.2:c.3470G>A	XP_011509081.1:p.Ser1157Asn
XM_011510780.2:c.3467G>A	XP_011509082.1:p.Ser1156Asn
XM_011510781.3:c.3452G>A	XP_011509083.1:p.Ser1151Asn
XM_011510782.3:c.3470G>A	XP_011509084.1:p.Ser1157Asn
XM_011510783.3:c.3302G>A	XP_011509085.1:p.Ser1101Asn
XM_011510784.2:c.3299G>A	XP_011509086.1:p.Ser1100Asn
XM_011510785.3:c.3284G>A	XP_011509087.1:p.Ser1095Asn
XM_011510786.3:c.3179G>A	XP_011509088.1:p.Ser1060Asn
XM_011510789.2:c.2993G>A	XP_011509091.1:p.Ser998Asn
XM_011510792.3:c.3470G>A	XP_011509094.1:p.Ser1157Asn
XM_017003568.1:c.3416G>A	XP_016859057.1:p.Ser1139Asn
XM_017003569.1:c.3248G>A	XP_016859058.1:p.Ser1083Asn
XM_017003570.1:c.2975G>A	XP_016859059.1:p.Ser992Asn
XM_017003571.1:c.2825G>A	XP_016859060.1:p.Ser942Asn
XM_017003572.1:c.2477G>A	XP_016859061.1:p.Ser826Asn
XM_017003573.1:c.2477G>A	XP_016859062.1:p.Ser826Asn
XM_017003574.1:c.2477G>A	XP_016859063.1:p.Ser826Asn
NM_015040.4:c.3434G>A MANE Select	NP_055855.2:p.Ser1145Asn