Canonical Allele Identifier: CA350115641

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326295-A-G
• MyVariant Identifiers: chr2:g.209191019A>G (hg19) ; chr2:g.208326295A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326295A>G , CM000664.2:g.208326295A>G	GRCh38
NC_000002.11:g.209191019A>G , CM000664.1:g.209191019A>G	GRCh37
NC_000002.10:g.208899264A>G	NCBI36
NG_021188.1:g.65029A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3484A>G MANE Select	ENSP00000264380.4:p.Ile1162Val
ENST00000264380.8:c.3484A>G	ENSP00000264380.4:p.Ile1162Val
ENST00000452564.1:c.3316A>G	ENSP00000405736.1:p.Ile1106Val
NM_015040.3:c.3484A>G	NP_055855.2:p.Ile1162Val
XM_011510778.1:c.3520A>G	XP_011509080.1:p.Ile1174Val
XM_011510779.1:c.3520A>G	XP_011509081.1:p.Ile1174Val
XM_011510780.1:c.3517A>G	XP_011509082.1:p.Ile1173Val
XM_011510781.1:c.3502A>G	XP_011509083.1:p.Ile1168Val
XM_011510782.1:c.3520A>G	XP_011509084.1:p.Ile1174Val
XM_011510783.1:c.3352A>G	XP_011509085.1:p.Ile1118Val
XM_011510784.1:c.3349A>G	XP_011509086.1:p.Ile1117Val
XM_011510785.1:c.3334A>G	XP_011509087.1:p.Ile1112Val
XM_011510786.1:c.3229A>G	XP_011509088.1:p.Ile1077Val
XM_011510787.1:c.3226A>G	XP_011509089.1:p.Ile1076Val
XM_011510788.1:c.3193A>G	XP_011509090.1:p.Ile1065Val
XM_011510789.1:c.3043A>G	XP_011509091.1:p.Ile1015Val
XM_011510790.1:c.2527A>G	XP_011509092.1:p.Ile843Val
XM_011510791.1:c.2527A>G	XP_011509093.1:p.Ile843Val
XM_011510792.1:c.3520A>G	XP_011509094.1:p.Ile1174Val
XR_922888.1:n.3657A>G
XM_011510778.3:c.3520A>G	XP_011509080.1:p.Ile1174Val
XM_011510779.2:c.3520A>G	XP_011509081.1:p.Ile1174Val
XM_011510780.2:c.3517A>G	XP_011509082.1:p.Ile1173Val
XM_011510781.3:c.3502A>G	XP_011509083.1:p.Ile1168Val
XM_011510782.3:c.3520A>G	XP_011509084.1:p.Ile1174Val
XM_011510783.3:c.3352A>G	XP_011509085.1:p.Ile1118Val
XM_011510784.2:c.3349A>G	XP_011509086.1:p.Ile1117Val
XM_011510785.3:c.3334A>G	XP_011509087.1:p.Ile1112Val
XM_011510786.3:c.3229A>G	XP_011509088.1:p.Ile1077Val
XM_011510789.2:c.3043A>G	XP_011509091.1:p.Ile1015Val
XM_011510792.3:c.3520A>G	XP_011509094.1:p.Ile1174Val
XM_017003568.1:c.3466A>G	XP_016859057.1:p.Ile1156Val
XM_017003569.1:c.3298A>G	XP_016859058.1:p.Ile1100Val
XM_017003570.1:c.3025A>G	XP_016859059.1:p.Ile1009Val
XM_017003571.1:c.2875A>G	XP_016859060.1:p.Ile959Val
XM_017003572.1:c.2527A>G	XP_016859061.1:p.Ile843Val
XM_017003573.1:c.2527A>G	XP_016859062.1:p.Ile843Val
XM_017003574.1:c.2527A>G	XP_016859063.1:p.Ile843Val
NM_015040.4:c.3484A>G MANE Select	NP_055855.2:p.Ile1162Val