Canonical Allele Identifier: CA431117129

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191127C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326403C>T , CM000664.2:g.208326403C>T	GRCh38
NC_000002.11:g.209191127C>T , CM000664.1:g.209191127C>T	GRCh37
NC_000002.10:g.208899372C>T	NCBI36
NG_021188.1:g.65137C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3592C>T MANE Select	ENSP00000264380.4:p.Leu1198=
ENST00000264380.8:c.3592C>T	ENSP00000264380.4:p.Leu1198=
ENST00000452564.1:c.3424C>T	ENSP00000405736.1:p.Leu1142=
NM_015040.3:c.3592C>T	NP_055855.2:p.Leu1198=
XM_011510778.1:c.3628C>T	XP_011509080.1:p.Leu1210=
XM_011510779.1:c.3628C>T	XP_011509081.1:p.Leu1210=
XM_011510780.1:c.3625C>T	XP_011509082.1:p.Leu1209=
XM_011510781.1:c.3610C>T	XP_011509083.1:p.Leu1204=
XM_011510782.1:c.3628C>T	XP_011509084.1:p.Leu1210=
XM_011510783.1:c.3460C>T	XP_011509085.1:p.Leu1154=
XM_011510784.1:c.3457C>T	XP_011509086.1:p.Leu1153=
XM_011510785.1:c.3442C>T	XP_011509087.1:p.Leu1148=
XM_011510786.1:c.3337C>T	XP_011509088.1:p.Leu1113=
XM_011510787.1:c.3334C>T	XP_011509089.1:p.Leu1112=
XM_011510788.1:c.3301C>T	XP_011509090.1:p.Leu1101=
XM_011510789.1:c.3151C>T	XP_011509091.1:p.Leu1051=
XM_011510790.1:c.2635C>T	XP_011509092.1:p.Leu879=
XM_011510791.1:c.2635C>T	XP_011509093.1:p.Leu879=
XM_011510792.1:c.3628C>T	XP_011509094.1:p.Leu1210=
XR_922888.1:n.3765C>T
XM_011510778.3:c.3628C>T	XP_011509080.1:p.Leu1210=
XM_011510779.2:c.3628C>T	XP_011509081.1:p.Leu1210=
XM_011510780.2:c.3625C>T	XP_011509082.1:p.Leu1209=
XM_011510781.3:c.3610C>T	XP_011509083.1:p.Leu1204=
XM_011510782.3:c.3628C>T	XP_011509084.1:p.Leu1210=
XM_011510783.3:c.3460C>T	XP_011509085.1:p.Leu1154=
XM_011510784.2:c.3457C>T	XP_011509086.1:p.Leu1153=
XM_011510785.3:c.3442C>T	XP_011509087.1:p.Leu1148=
XM_011510786.3:c.3337C>T	XP_011509088.1:p.Leu1113=
XM_011510789.2:c.3151C>T	XP_011509091.1:p.Leu1051=
XM_011510792.3:c.3628C>T	XP_011509094.1:p.Leu1210=
XM_017003568.1:c.3574C>T	XP_016859057.1:p.Leu1192=
XM_017003569.1:c.3406C>T	XP_016859058.1:p.Leu1136=
XM_017003570.1:c.3133C>T	XP_016859059.1:p.Leu1045=
XM_017003571.1:c.2983C>T	XP_016859060.1:p.Leu995=
XM_017003572.1:c.2635C>T	XP_016859061.1:p.Leu879=
XM_017003573.1:c.2635C>T	XP_016859062.1:p.Leu879=
XM_017003574.1:c.2635C>T	XP_016859063.1:p.Leu879=
NM_015040.4:c.3592C>T MANE Select	NP_055855.2:p.Leu1198=