Canonical Allele Identifier: CA431117097

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191075A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326351A>T , CM000664.2:g.208326351A>T	GRCh38
NC_000002.11:g.209191075A>T , CM000664.1:g.209191075A>T	GRCh37
NC_000002.10:g.208899320A>T	NCBI36
NG_021188.1:g.65085A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3540A>T MANE Select	ENSP00000264380.4:p.Ser1180=
ENST00000264380.8:c.3540A>T	ENSP00000264380.4:p.Ser1180=
ENST00000452564.1:c.3372A>T	ENSP00000405736.1:p.Ser1124=
NM_015040.3:c.3540A>T	NP_055855.2:p.Ser1180=
XM_011510778.1:c.3576A>T	XP_011509080.1:p.Ser1192=
XM_011510779.1:c.3576A>T	XP_011509081.1:p.Ser1192=
XM_011510780.1:c.3573A>T	XP_011509082.1:p.Ser1191=
XM_011510781.1:c.3558A>T	XP_011509083.1:p.Ser1186=
XM_011510782.1:c.3576A>T	XP_011509084.1:p.Ser1192=
XM_011510783.1:c.3408A>T	XP_011509085.1:p.Ser1136=
XM_011510784.1:c.3405A>T	XP_011509086.1:p.Ser1135=
XM_011510785.1:c.3390A>T	XP_011509087.1:p.Ser1130=
XM_011510786.1:c.3285A>T	XP_011509088.1:p.Ser1095=
XM_011510787.1:c.3282A>T	XP_011509089.1:p.Ser1094=
XM_011510788.1:c.3249A>T	XP_011509090.1:p.Ser1083=
XM_011510789.1:c.3099A>T	XP_011509091.1:p.Ser1033=
XM_011510790.1:c.2583A>T	XP_011509092.1:p.Ser861=
XM_011510791.1:c.2583A>T	XP_011509093.1:p.Ser861=
XM_011510792.1:c.3576A>T	XP_011509094.1:p.Ser1192=
XR_922888.1:n.3713A>T
XM_011510778.3:c.3576A>T	XP_011509080.1:p.Ser1192=
XM_011510779.2:c.3576A>T	XP_011509081.1:p.Ser1192=
XM_011510780.2:c.3573A>T	XP_011509082.1:p.Ser1191=
XM_011510781.3:c.3558A>T	XP_011509083.1:p.Ser1186=
XM_011510782.3:c.3576A>T	XP_011509084.1:p.Ser1192=
XM_011510783.3:c.3408A>T	XP_011509085.1:p.Ser1136=
XM_011510784.2:c.3405A>T	XP_011509086.1:p.Ser1135=
XM_011510785.3:c.3390A>T	XP_011509087.1:p.Ser1130=
XM_011510786.3:c.3285A>T	XP_011509088.1:p.Ser1095=
XM_011510789.2:c.3099A>T	XP_011509091.1:p.Ser1033=
XM_011510792.3:c.3576A>T	XP_011509094.1:p.Ser1192=
XM_017003568.1:c.3522A>T	XP_016859057.1:p.Ser1174=
XM_017003569.1:c.3354A>T	XP_016859058.1:p.Ser1118=
XM_017003570.1:c.3081A>T	XP_016859059.1:p.Ser1027=
XM_017003571.1:c.2931A>T	XP_016859060.1:p.Ser977=
XM_017003572.1:c.2583A>T	XP_016859061.1:p.Ser861=
XM_017003573.1:c.2583A>T	XP_016859062.1:p.Ser861=
XM_017003574.1:c.2583A>T	XP_016859063.1:p.Ser861=
NM_015040.4:c.3540A>T MANE Select	NP_055855.2:p.Ser1180=