Canonical Allele Identifier: CA350115478

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190945G>C (hg19) ; chr2:g.208326221G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326221G>C , CM000664.2:g.208326221G>C	GRCh38
NC_000002.11:g.209190945G>C , CM000664.1:g.209190945G>C	GRCh37
NC_000002.10:g.208899190G>C	NCBI36
NG_021188.1:g.64955G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3410G>C MANE Select	ENSP00000264380.4:p.Arg1137Thr
ENST00000264380.8:c.3410G>C	ENSP00000264380.4:p.Arg1137Thr
ENST00000452564.1:c.3242G>C	ENSP00000405736.1:p.Arg1081Thr
NM_015040.3:c.3410G>C	NP_055855.2:p.Arg1137Thr
XM_011510778.1:c.3446G>C	XP_011509080.1:p.Arg1149Thr
XM_011510779.1:c.3446G>C	XP_011509081.1:p.Arg1149Thr
XM_011510780.1:c.3443G>C	XP_011509082.1:p.Arg1148Thr
XM_011510781.1:c.3428G>C	XP_011509083.1:p.Arg1143Thr
XM_011510782.1:c.3446G>C	XP_011509084.1:p.Arg1149Thr
XM_011510783.1:c.3278G>C	XP_011509085.1:p.Arg1093Thr
XM_011510784.1:c.3275G>C	XP_011509086.1:p.Arg1092Thr
XM_011510785.1:c.3260G>C	XP_011509087.1:p.Arg1087Thr
XM_011510786.1:c.3155G>C	XP_011509088.1:p.Arg1052Thr
XM_011510787.1:c.3152G>C	XP_011509089.1:p.Arg1051Thr
XM_011510788.1:c.3119G>C	XP_011509090.1:p.Arg1040Thr
XM_011510789.1:c.2969G>C	XP_011509091.1:p.Arg990Thr
XM_011510790.1:c.2453G>C	XP_011509092.1:p.Arg818Thr
XM_011510791.1:c.2453G>C	XP_011509093.1:p.Arg818Thr
XM_011510792.1:c.3446G>C	XP_011509094.1:p.Arg1149Thr
XR_922888.1:n.3583G>C
XM_011510778.3:c.3446G>C	XP_011509080.1:p.Arg1149Thr
XM_011510779.2:c.3446G>C	XP_011509081.1:p.Arg1149Thr
XM_011510780.2:c.3443G>C	XP_011509082.1:p.Arg1148Thr
XM_011510781.3:c.3428G>C	XP_011509083.1:p.Arg1143Thr
XM_011510782.3:c.3446G>C	XP_011509084.1:p.Arg1149Thr
XM_011510783.3:c.3278G>C	XP_011509085.1:p.Arg1093Thr
XM_011510784.2:c.3275G>C	XP_011509086.1:p.Arg1092Thr
XM_011510785.3:c.3260G>C	XP_011509087.1:p.Arg1087Thr
XM_011510786.3:c.3155G>C	XP_011509088.1:p.Arg1052Thr
XM_011510789.2:c.2969G>C	XP_011509091.1:p.Arg990Thr
XM_011510792.3:c.3446G>C	XP_011509094.1:p.Arg1149Thr
XM_017003568.1:c.3392G>C	XP_016859057.1:p.Arg1131Thr
XM_017003569.1:c.3224G>C	XP_016859058.1:p.Arg1075Thr
XM_017003570.1:c.2951G>C	XP_016859059.1:p.Arg984Thr
XM_017003571.1:c.2801G>C	XP_016859060.1:p.Arg934Thr
XM_017003572.1:c.2453G>C	XP_016859061.1:p.Arg818Thr
XM_017003573.1:c.2453G>C	XP_016859062.1:p.Arg818Thr
XM_017003574.1:c.2453G>C	XP_016859063.1:p.Arg818Thr
NM_015040.4:c.3410G>C MANE Select	NP_055855.2:p.Arg1137Thr