Canonical Allele Identifier: CA350115490

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190950G>C (hg19) ; chr2:g.208326226G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326226G>C , CM000664.2:g.208326226G>C	GRCh38
NC_000002.11:g.209190950G>C , CM000664.1:g.209190950G>C	GRCh37
NC_000002.10:g.208899195G>C	NCBI36
NG_021188.1:g.64960G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3415G>C MANE Select	ENSP00000264380.4:p.Ala1139Pro
ENST00000264380.8:c.3415G>C	ENSP00000264380.4:p.Ala1139Pro
ENST00000452564.1:c.3247G>C	ENSP00000405736.1:p.Ala1083Pro
NM_015040.3:c.3415G>C	NP_055855.2:p.Ala1139Pro
XM_011510778.1:c.3451G>C	XP_011509080.1:p.Ala1151Pro
XM_011510779.1:c.3451G>C	XP_011509081.1:p.Ala1151Pro
XM_011510780.1:c.3448G>C	XP_011509082.1:p.Ala1150Pro
XM_011510781.1:c.3433G>C	XP_011509083.1:p.Ala1145Pro
XM_011510782.1:c.3451G>C	XP_011509084.1:p.Ala1151Pro
XM_011510783.1:c.3283G>C	XP_011509085.1:p.Ala1095Pro
XM_011510784.1:c.3280G>C	XP_011509086.1:p.Ala1094Pro
XM_011510785.1:c.3265G>C	XP_011509087.1:p.Ala1089Pro
XM_011510786.1:c.3160G>C	XP_011509088.1:p.Ala1054Pro
XM_011510787.1:c.3157G>C	XP_011509089.1:p.Ala1053Pro
XM_011510788.1:c.3124G>C	XP_011509090.1:p.Ala1042Pro
XM_011510789.1:c.2974G>C	XP_011509091.1:p.Ala992Pro
XM_011510790.1:c.2458G>C	XP_011509092.1:p.Ala820Pro
XM_011510791.1:c.2458G>C	XP_011509093.1:p.Ala820Pro
XM_011510792.1:c.3451G>C	XP_011509094.1:p.Ala1151Pro
XR_922888.1:n.3588G>C
XM_011510778.3:c.3451G>C	XP_011509080.1:p.Ala1151Pro
XM_011510779.2:c.3451G>C	XP_011509081.1:p.Ala1151Pro
XM_011510780.2:c.3448G>C	XP_011509082.1:p.Ala1150Pro
XM_011510781.3:c.3433G>C	XP_011509083.1:p.Ala1145Pro
XM_011510782.3:c.3451G>C	XP_011509084.1:p.Ala1151Pro
XM_011510783.3:c.3283G>C	XP_011509085.1:p.Ala1095Pro
XM_011510784.2:c.3280G>C	XP_011509086.1:p.Ala1094Pro
XM_011510785.3:c.3265G>C	XP_011509087.1:p.Ala1089Pro
XM_011510786.3:c.3160G>C	XP_011509088.1:p.Ala1054Pro
XM_011510789.2:c.2974G>C	XP_011509091.1:p.Ala992Pro
XM_011510792.3:c.3451G>C	XP_011509094.1:p.Ala1151Pro
XM_017003568.1:c.3397G>C	XP_016859057.1:p.Ala1133Pro
XM_017003569.1:c.3229G>C	XP_016859058.1:p.Ala1077Pro
XM_017003570.1:c.2956G>C	XP_016859059.1:p.Ala986Pro
XM_017003571.1:c.2806G>C	XP_016859060.1:p.Ala936Pro
XM_017003572.1:c.2458G>C	XP_016859061.1:p.Ala820Pro
XM_017003573.1:c.2458G>C	XP_016859062.1:p.Ala820Pro
XM_017003574.1:c.2458G>C	XP_016859063.1:p.Ala820Pro
NM_015040.4:c.3415G>C MANE Select	NP_055855.2:p.Ala1139Pro