Canonical Allele Identifier: CA350115635

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191017G>C (hg19) ; chr2:g.208326293G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326293G>C , CM000664.2:g.208326293G>C	GRCh38
NC_000002.11:g.209191017G>C , CM000664.1:g.209191017G>C	GRCh37
NC_000002.10:g.208899262G>C	NCBI36
NG_021188.1:g.65027G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3482G>C MANE Select	ENSP00000264380.4:p.Arg1161Thr
ENST00000264380.8:c.3482G>C	ENSP00000264380.4:p.Arg1161Thr
ENST00000452564.1:c.3314G>C	ENSP00000405736.1:p.Arg1105Thr
NM_015040.3:c.3482G>C	NP_055855.2:p.Arg1161Thr
XM_011510778.1:c.3518G>C	XP_011509080.1:p.Arg1173Thr
XM_011510779.1:c.3518G>C	XP_011509081.1:p.Arg1173Thr
XM_011510780.1:c.3515G>C	XP_011509082.1:p.Arg1172Thr
XM_011510781.1:c.3500G>C	XP_011509083.1:p.Arg1167Thr
XM_011510782.1:c.3518G>C	XP_011509084.1:p.Arg1173Thr
XM_011510783.1:c.3350G>C	XP_011509085.1:p.Arg1117Thr
XM_011510784.1:c.3347G>C	XP_011509086.1:p.Arg1116Thr
XM_011510785.1:c.3332G>C	XP_011509087.1:p.Arg1111Thr
XM_011510786.1:c.3227G>C	XP_011509088.1:p.Arg1076Thr
XM_011510787.1:c.3224G>C	XP_011509089.1:p.Arg1075Thr
XM_011510788.1:c.3191G>C	XP_011509090.1:p.Arg1064Thr
XM_011510789.1:c.3041G>C	XP_011509091.1:p.Arg1014Thr
XM_011510790.1:c.2525G>C	XP_011509092.1:p.Arg842Thr
XM_011510791.1:c.2525G>C	XP_011509093.1:p.Arg842Thr
XM_011510792.1:c.3518G>C	XP_011509094.1:p.Arg1173Thr
XR_922888.1:n.3655G>C
XM_011510778.3:c.3518G>C	XP_011509080.1:p.Arg1173Thr
XM_011510779.2:c.3518G>C	XP_011509081.1:p.Arg1173Thr
XM_011510780.2:c.3515G>C	XP_011509082.1:p.Arg1172Thr
XM_011510781.3:c.3500G>C	XP_011509083.1:p.Arg1167Thr
XM_011510782.3:c.3518G>C	XP_011509084.1:p.Arg1173Thr
XM_011510783.3:c.3350G>C	XP_011509085.1:p.Arg1117Thr
XM_011510784.2:c.3347G>C	XP_011509086.1:p.Arg1116Thr
XM_011510785.3:c.3332G>C	XP_011509087.1:p.Arg1111Thr
XM_011510786.3:c.3227G>C	XP_011509088.1:p.Arg1076Thr
XM_011510789.2:c.3041G>C	XP_011509091.1:p.Arg1014Thr
XM_011510792.3:c.3518G>C	XP_011509094.1:p.Arg1173Thr
XM_017003568.1:c.3464G>C	XP_016859057.1:p.Arg1155Thr
XM_017003569.1:c.3296G>C	XP_016859058.1:p.Arg1099Thr
XM_017003570.1:c.3023G>C	XP_016859059.1:p.Arg1008Thr
XM_017003571.1:c.2873G>C	XP_016859060.1:p.Arg958Thr
XM_017003572.1:c.2525G>C	XP_016859061.1:p.Arg842Thr
XM_017003573.1:c.2525G>C	XP_016859062.1:p.Arg842Thr
XM_017003574.1:c.2525G>C	XP_016859063.1:p.Arg842Thr
NM_015040.4:c.3482G>C MANE Select	NP_055855.2:p.Arg1161Thr