Canonical Allele Identifier: CA431117810

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190991G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326267G>A , CM000664.2:g.208326267G>A	GRCh38
NC_000002.11:g.209190991G>A , CM000664.1:g.209190991G>A	GRCh37
NC_000002.10:g.208899236G>A	NCBI36
NG_021188.1:g.65001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3456G>A MANE Select	ENSP00000264380.4:p.Leu1152=
ENST00000264380.8:c.3456G>A	ENSP00000264380.4:p.Leu1152=
ENST00000452564.1:c.3288G>A	ENSP00000405736.1:p.Leu1096=
NM_015040.3:c.3456G>A	NP_055855.2:p.Leu1152=
XM_011510778.1:c.3492G>A	XP_011509080.1:p.Leu1164=
XM_011510779.1:c.3492G>A	XP_011509081.1:p.Leu1164=
XM_011510780.1:c.3489G>A	XP_011509082.1:p.Leu1163=
XM_011510781.1:c.3474G>A	XP_011509083.1:p.Leu1158=
XM_011510782.1:c.3492G>A	XP_011509084.1:p.Leu1164=
XM_011510783.1:c.3324G>A	XP_011509085.1:p.Leu1108=
XM_011510784.1:c.3321G>A	XP_011509086.1:p.Leu1107=
XM_011510785.1:c.3306G>A	XP_011509087.1:p.Leu1102=
XM_011510786.1:c.3201G>A	XP_011509088.1:p.Leu1067=
XM_011510787.1:c.3198G>A	XP_011509089.1:p.Leu1066=
XM_011510788.1:c.3165G>A	XP_011509090.1:p.Leu1055=
XM_011510789.1:c.3015G>A	XP_011509091.1:p.Leu1005=
XM_011510790.1:c.2499G>A	XP_011509092.1:p.Leu833=
XM_011510791.1:c.2499G>A	XP_011509093.1:p.Leu833=
XM_011510792.1:c.3492G>A	XP_011509094.1:p.Leu1164=
XR_922888.1:n.3629G>A
XM_011510778.3:c.3492G>A	XP_011509080.1:p.Leu1164=
XM_011510779.2:c.3492G>A	XP_011509081.1:p.Leu1164=
XM_011510780.2:c.3489G>A	XP_011509082.1:p.Leu1163=
XM_011510781.3:c.3474G>A	XP_011509083.1:p.Leu1158=
XM_011510782.3:c.3492G>A	XP_011509084.1:p.Leu1164=
XM_011510783.3:c.3324G>A	XP_011509085.1:p.Leu1108=
XM_011510784.2:c.3321G>A	XP_011509086.1:p.Leu1107=
XM_011510785.3:c.3306G>A	XP_011509087.1:p.Leu1102=
XM_011510786.3:c.3201G>A	XP_011509088.1:p.Leu1067=
XM_011510789.2:c.3015G>A	XP_011509091.1:p.Leu1005=
XM_011510792.3:c.3492G>A	XP_011509094.1:p.Leu1164=
XM_017003568.1:c.3438G>A	XP_016859057.1:p.Leu1146=
XM_017003569.1:c.3270G>A	XP_016859058.1:p.Leu1090=
XM_017003570.1:c.2997G>A	XP_016859059.1:p.Leu999=
XM_017003571.1:c.2847G>A	XP_016859060.1:p.Leu949=
XM_017003572.1:c.2499G>A	XP_016859061.1:p.Leu833=
XM_017003573.1:c.2499G>A	XP_016859062.1:p.Leu833=
XM_017003574.1:c.2499G>A	XP_016859063.1:p.Leu833=
NM_015040.4:c.3456G>A MANE Select	NP_055855.2:p.Leu1152=