Canonical Allele Identifier: CA350115485

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326224-T-C
• MyVariant Identifiers: chr2:g.209190948T>C (hg19) ; chr2:g.208326224T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326224T>C , CM000664.2:g.208326224T>C	GRCh38
NC_000002.11:g.209190948T>C , CM000664.1:g.209190948T>C	GRCh37
NC_000002.10:g.208899193T>C	NCBI36
NG_021188.1:g.64958T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3413T>C MANE Select	ENSP00000264380.4:p.Ile1138Thr
ENST00000264380.8:c.3413T>C	ENSP00000264380.4:p.Ile1138Thr
ENST00000452564.1:c.3245T>C	ENSP00000405736.1:p.Ile1082Thr
NM_015040.3:c.3413T>C	NP_055855.2:p.Ile1138Thr
XM_011510778.1:c.3449T>C	XP_011509080.1:p.Ile1150Thr
XM_011510779.1:c.3449T>C	XP_011509081.1:p.Ile1150Thr
XM_011510780.1:c.3446T>C	XP_011509082.1:p.Ile1149Thr
XM_011510781.1:c.3431T>C	XP_011509083.1:p.Ile1144Thr
XM_011510782.1:c.3449T>C	XP_011509084.1:p.Ile1150Thr
XM_011510783.1:c.3281T>C	XP_011509085.1:p.Ile1094Thr
XM_011510784.1:c.3278T>C	XP_011509086.1:p.Ile1093Thr
XM_011510785.1:c.3263T>C	XP_011509087.1:p.Ile1088Thr
XM_011510786.1:c.3158T>C	XP_011509088.1:p.Ile1053Thr
XM_011510787.1:c.3155T>C	XP_011509089.1:p.Ile1052Thr
XM_011510788.1:c.3122T>C	XP_011509090.1:p.Ile1041Thr
XM_011510789.1:c.2972T>C	XP_011509091.1:p.Ile991Thr
XM_011510790.1:c.2456T>C	XP_011509092.1:p.Ile819Thr
XM_011510791.1:c.2456T>C	XP_011509093.1:p.Ile819Thr
XM_011510792.1:c.3449T>C	XP_011509094.1:p.Ile1150Thr
XR_922888.1:n.3586T>C
XM_011510778.3:c.3449T>C	XP_011509080.1:p.Ile1150Thr
XM_011510779.2:c.3449T>C	XP_011509081.1:p.Ile1150Thr
XM_011510780.2:c.3446T>C	XP_011509082.1:p.Ile1149Thr
XM_011510781.3:c.3431T>C	XP_011509083.1:p.Ile1144Thr
XM_011510782.3:c.3449T>C	XP_011509084.1:p.Ile1150Thr
XM_011510783.3:c.3281T>C	XP_011509085.1:p.Ile1094Thr
XM_011510784.2:c.3278T>C	XP_011509086.1:p.Ile1093Thr
XM_011510785.3:c.3263T>C	XP_011509087.1:p.Ile1088Thr
XM_011510786.3:c.3158T>C	XP_011509088.1:p.Ile1053Thr
XM_011510789.2:c.2972T>C	XP_011509091.1:p.Ile991Thr
XM_011510792.3:c.3449T>C	XP_011509094.1:p.Ile1150Thr
XM_017003568.1:c.3395T>C	XP_016859057.1:p.Ile1132Thr
XM_017003569.1:c.3227T>C	XP_016859058.1:p.Ile1076Thr
XM_017003570.1:c.2954T>C	XP_016859059.1:p.Ile985Thr
XM_017003571.1:c.2804T>C	XP_016859060.1:p.Ile935Thr
XM_017003572.1:c.2456T>C	XP_016859061.1:p.Ile819Thr
XM_017003573.1:c.2456T>C	XP_016859062.1:p.Ile819Thr
XM_017003574.1:c.2456T>C	XP_016859063.1:p.Ile819Thr
NM_015040.4:c.3413T>C MANE Select	NP_055855.2:p.Ile1138Thr