Canonical Allele Identifier: CA350115539

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190972A>C (hg19) ; chr2:g.208326248A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326248A>C , CM000664.2:g.208326248A>C	GRCh38
NC_000002.11:g.209190972A>C , CM000664.1:g.209190972A>C	GRCh37
NC_000002.10:g.208899217A>C	NCBI36
NG_021188.1:g.64982A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3437A>C MANE Select	ENSP00000264380.4:p.Gln1146Pro
ENST00000264380.8:c.3437A>C	ENSP00000264380.4:p.Gln1146Pro
ENST00000452564.1:c.3269A>C	ENSP00000405736.1:p.Gln1090Pro
NM_015040.3:c.3437A>C	NP_055855.2:p.Gln1146Pro
XM_011510778.1:c.3473A>C	XP_011509080.1:p.Gln1158Pro
XM_011510779.1:c.3473A>C	XP_011509081.1:p.Gln1158Pro
XM_011510780.1:c.3470A>C	XP_011509082.1:p.Gln1157Pro
XM_011510781.1:c.3455A>C	XP_011509083.1:p.Gln1152Pro
XM_011510782.1:c.3473A>C	XP_011509084.1:p.Gln1158Pro
XM_011510783.1:c.3305A>C	XP_011509085.1:p.Gln1102Pro
XM_011510784.1:c.3302A>C	XP_011509086.1:p.Gln1101Pro
XM_011510785.1:c.3287A>C	XP_011509087.1:p.Gln1096Pro
XM_011510786.1:c.3182A>C	XP_011509088.1:p.Gln1061Pro
XM_011510787.1:c.3179A>C	XP_011509089.1:p.Gln1060Pro
XM_011510788.1:c.3146A>C	XP_011509090.1:p.Gln1049Pro
XM_011510789.1:c.2996A>C	XP_011509091.1:p.Gln999Pro
XM_011510790.1:c.2480A>C	XP_011509092.1:p.Gln827Pro
XM_011510791.1:c.2480A>C	XP_011509093.1:p.Gln827Pro
XM_011510792.1:c.3473A>C	XP_011509094.1:p.Gln1158Pro
XR_922888.1:n.3610A>C
XM_011510778.3:c.3473A>C	XP_011509080.1:p.Gln1158Pro
XM_011510779.2:c.3473A>C	XP_011509081.1:p.Gln1158Pro
XM_011510780.2:c.3470A>C	XP_011509082.1:p.Gln1157Pro
XM_011510781.3:c.3455A>C	XP_011509083.1:p.Gln1152Pro
XM_011510782.3:c.3473A>C	XP_011509084.1:p.Gln1158Pro
XM_011510783.3:c.3305A>C	XP_011509085.1:p.Gln1102Pro
XM_011510784.2:c.3302A>C	XP_011509086.1:p.Gln1101Pro
XM_011510785.3:c.3287A>C	XP_011509087.1:p.Gln1096Pro
XM_011510786.3:c.3182A>C	XP_011509088.1:p.Gln1061Pro
XM_011510789.2:c.2996A>C	XP_011509091.1:p.Gln999Pro
XM_011510792.3:c.3473A>C	XP_011509094.1:p.Gln1158Pro
XM_017003568.1:c.3419A>C	XP_016859057.1:p.Gln1140Pro
XM_017003569.1:c.3251A>C	XP_016859058.1:p.Gln1084Pro
XM_017003570.1:c.2978A>C	XP_016859059.1:p.Gln993Pro
XM_017003571.1:c.2828A>C	XP_016859060.1:p.Gln943Pro
XM_017003572.1:c.2480A>C	XP_016859061.1:p.Gln827Pro
XM_017003573.1:c.2480A>C	XP_016859062.1:p.Gln827Pro
XM_017003574.1:c.2480A>C	XP_016859063.1:p.Gln827Pro
NM_015040.4:c.3437A>C MANE Select	NP_055855.2:p.Gln1146Pro