Canonical Allele Identifier: CA431117720

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190961G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326237G>T , CM000664.2:g.208326237G>T	GRCh38
NC_000002.11:g.209190961G>T , CM000664.1:g.209190961G>T	GRCh37
NC_000002.10:g.208899206G>T	NCBI36
NG_021188.1:g.64971G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3426G>T MANE Select	ENSP00000264380.4:p.Leu1142=
ENST00000264380.8:c.3426G>T	ENSP00000264380.4:p.Leu1142=
ENST00000452564.1:c.3258G>T	ENSP00000405736.1:p.Leu1086=
NM_015040.3:c.3426G>T	NP_055855.2:p.Leu1142=
XM_011510778.1:c.3462G>T	XP_011509080.1:p.Leu1154=
XM_011510779.1:c.3462G>T	XP_011509081.1:p.Leu1154=
XM_011510780.1:c.3459G>T	XP_011509082.1:p.Leu1153=
XM_011510781.1:c.3444G>T	XP_011509083.1:p.Leu1148=
XM_011510782.1:c.3462G>T	XP_011509084.1:p.Leu1154=
XM_011510783.1:c.3294G>T	XP_011509085.1:p.Leu1098=
XM_011510784.1:c.3291G>T	XP_011509086.1:p.Leu1097=
XM_011510785.1:c.3276G>T	XP_011509087.1:p.Leu1092=
XM_011510786.1:c.3171G>T	XP_011509088.1:p.Leu1057=
XM_011510787.1:c.3168G>T	XP_011509089.1:p.Leu1056=
XM_011510788.1:c.3135G>T	XP_011509090.1:p.Leu1045=
XM_011510789.1:c.2985G>T	XP_011509091.1:p.Leu995=
XM_011510790.1:c.2469G>T	XP_011509092.1:p.Leu823=
XM_011510791.1:c.2469G>T	XP_011509093.1:p.Leu823=
XM_011510792.1:c.3462G>T	XP_011509094.1:p.Leu1154=
XR_922888.1:n.3599G>T
XM_011510778.3:c.3462G>T	XP_011509080.1:p.Leu1154=
XM_011510779.2:c.3462G>T	XP_011509081.1:p.Leu1154=
XM_011510780.2:c.3459G>T	XP_011509082.1:p.Leu1153=
XM_011510781.3:c.3444G>T	XP_011509083.1:p.Leu1148=
XM_011510782.3:c.3462G>T	XP_011509084.1:p.Leu1154=
XM_011510783.3:c.3294G>T	XP_011509085.1:p.Leu1098=
XM_011510784.2:c.3291G>T	XP_011509086.1:p.Leu1097=
XM_011510785.3:c.3276G>T	XP_011509087.1:p.Leu1092=
XM_011510786.3:c.3171G>T	XP_011509088.1:p.Leu1057=
XM_011510789.2:c.2985G>T	XP_011509091.1:p.Leu995=
XM_011510792.3:c.3462G>T	XP_011509094.1:p.Leu1154=
XM_017003568.1:c.3408G>T	XP_016859057.1:p.Leu1136=
XM_017003569.1:c.3240G>T	XP_016859058.1:p.Leu1080=
XM_017003570.1:c.2967G>T	XP_016859059.1:p.Leu989=
XM_017003571.1:c.2817G>T	XP_016859060.1:p.Leu939=
XM_017003572.1:c.2469G>T	XP_016859061.1:p.Leu823=
XM_017003573.1:c.2469G>T	XP_016859062.1:p.Leu823=
XM_017003574.1:c.2469G>T	XP_016859063.1:p.Leu823=
NM_015040.4:c.3426G>T MANE Select	NP_055855.2:p.Leu1142=