Canonical Allele Identifier: CA350115476

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190944A>T (hg19) ; chr2:g.208326220A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326220A>T , CM000664.2:g.208326220A>T	GRCh38
NC_000002.11:g.209190944A>T , CM000664.1:g.209190944A>T	GRCh37
NC_000002.10:g.208899189A>T	NCBI36
NG_021188.1:g.64954A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3409A>T MANE Select	ENSP00000264380.4:p.Arg1137Ter
ENST00000264380.8:c.3409A>T	ENSP00000264380.4:p.Arg1137Ter
ENST00000452564.1:c.3241A>T	ENSP00000405736.1:p.Arg1081Ter
NM_015040.3:c.3409A>T	NP_055855.2:p.Arg1137Ter
XM_011510778.1:c.3445A>T	XP_011509080.1:p.Arg1149Ter
XM_011510779.1:c.3445A>T	XP_011509081.1:p.Arg1149Ter
XM_011510780.1:c.3442A>T	XP_011509082.1:p.Arg1148Ter
XM_011510781.1:c.3427A>T	XP_011509083.1:p.Arg1143Ter
XM_011510782.1:c.3445A>T	XP_011509084.1:p.Arg1149Ter
XM_011510783.1:c.3277A>T	XP_011509085.1:p.Arg1093Ter
XM_011510784.1:c.3274A>T	XP_011509086.1:p.Arg1092Ter
XM_011510785.1:c.3259A>T	XP_011509087.1:p.Arg1087Ter
XM_011510786.1:c.3154A>T	XP_011509088.1:p.Arg1052Ter
XM_011510787.1:c.3151A>T	XP_011509089.1:p.Arg1051Ter
XM_011510788.1:c.3118A>T	XP_011509090.1:p.Arg1040Ter
XM_011510789.1:c.2968A>T	XP_011509091.1:p.Arg990Ter
XM_011510790.1:c.2452A>T	XP_011509092.1:p.Arg818Ter
XM_011510791.1:c.2452A>T	XP_011509093.1:p.Arg818Ter
XM_011510792.1:c.3445A>T	XP_011509094.1:p.Arg1149Ter
XR_922888.1:n.3582A>T
XM_011510778.3:c.3445A>T	XP_011509080.1:p.Arg1149Ter
XM_011510779.2:c.3445A>T	XP_011509081.1:p.Arg1149Ter
XM_011510780.2:c.3442A>T	XP_011509082.1:p.Arg1148Ter
XM_011510781.3:c.3427A>T	XP_011509083.1:p.Arg1143Ter
XM_011510782.3:c.3445A>T	XP_011509084.1:p.Arg1149Ter
XM_011510783.3:c.3277A>T	XP_011509085.1:p.Arg1093Ter
XM_011510784.2:c.3274A>T	XP_011509086.1:p.Arg1092Ter
XM_011510785.3:c.3259A>T	XP_011509087.1:p.Arg1087Ter
XM_011510786.3:c.3154A>T	XP_011509088.1:p.Arg1052Ter
XM_011510789.2:c.2968A>T	XP_011509091.1:p.Arg990Ter
XM_011510792.3:c.3445A>T	XP_011509094.1:p.Arg1149Ter
XM_017003568.1:c.3391A>T	XP_016859057.1:p.Arg1131Ter
XM_017003569.1:c.3223A>T	XP_016859058.1:p.Arg1075Ter
XM_017003570.1:c.2950A>T	XP_016859059.1:p.Arg984Ter
XM_017003571.1:c.2800A>T	XP_016859060.1:p.Arg934Ter
XM_017003572.1:c.2452A>T	XP_016859061.1:p.Arg818Ter
XM_017003573.1:c.2452A>T	XP_016859062.1:p.Arg818Ter
XM_017003574.1:c.2452A>T	XP_016859063.1:p.Arg818Ter
NM_015040.4:c.3409A>T MANE Select	NP_055855.2:p.Arg1137Ter