Canonical Allele Identifier: CA431117642

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190925A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326201A>C , CM000664.2:g.208326201A>C	GRCh38
NC_000002.11:g.209190925A>C , CM000664.1:g.209190925A>C	GRCh37
NC_000002.10:g.208899170A>C	NCBI36
NG_021188.1:g.64935A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3390A>C MANE Select	ENSP00000264380.4:p.Ser1130=
ENST00000264380.8:c.3390A>C	ENSP00000264380.4:p.Ser1130=
ENST00000452564.1:c.3222A>C	ENSP00000405736.1:p.Ser1074=
NM_015040.3:c.3390A>C	NP_055855.2:p.Ser1130=
XM_011510778.1:c.3426A>C	XP_011509080.1:p.Ser1142=
XM_011510779.1:c.3426A>C	XP_011509081.1:p.Ser1142=
XM_011510780.1:c.3423A>C	XP_011509082.1:p.Ser1141=
XM_011510781.1:c.3408A>C	XP_011509083.1:p.Ser1136=
XM_011510782.1:c.3426A>C	XP_011509084.1:p.Ser1142=
XM_011510783.1:c.3258A>C	XP_011509085.1:p.Ser1086=
XM_011510784.1:c.3255A>C	XP_011509086.1:p.Ser1085=
XM_011510785.1:c.3240A>C	XP_011509087.1:p.Ser1080=
XM_011510786.1:c.3135A>C	XP_011509088.1:p.Ser1045=
XM_011510787.1:c.3132A>C	XP_011509089.1:p.Ser1044=
XM_011510788.1:c.3099A>C	XP_011509090.1:p.Ser1033=
XM_011510789.1:c.2949A>C	XP_011509091.1:p.Ser983=
XM_011510790.1:c.2433A>C	XP_011509092.1:p.Ser811=
XM_011510791.1:c.2433A>C	XP_011509093.1:p.Ser811=
XM_011510792.1:c.3426A>C	XP_011509094.1:p.Ser1142=
XR_922888.1:n.3563A>C
XM_011510778.3:c.3426A>C	XP_011509080.1:p.Ser1142=
XM_011510779.2:c.3426A>C	XP_011509081.1:p.Ser1142=
XM_011510780.2:c.3423A>C	XP_011509082.1:p.Ser1141=
XM_011510781.3:c.3408A>C	XP_011509083.1:p.Ser1136=
XM_011510782.3:c.3426A>C	XP_011509084.1:p.Ser1142=
XM_011510783.3:c.3258A>C	XP_011509085.1:p.Ser1086=
XM_011510784.2:c.3255A>C	XP_011509086.1:p.Ser1085=
XM_011510785.3:c.3240A>C	XP_011509087.1:p.Ser1080=
XM_011510786.3:c.3135A>C	XP_011509088.1:p.Ser1045=
XM_011510789.2:c.2949A>C	XP_011509091.1:p.Ser983=
XM_011510792.3:c.3426A>C	XP_011509094.1:p.Ser1142=
XM_017003568.1:c.3372A>C	XP_016859057.1:p.Ser1124=
XM_017003569.1:c.3204A>C	XP_016859058.1:p.Ser1068=
XM_017003570.1:c.2931A>C	XP_016859059.1:p.Ser977=
XM_017003571.1:c.2781A>C	XP_016859060.1:p.Ser927=
XM_017003572.1:c.2433A>C	XP_016859061.1:p.Ser811=
XM_017003573.1:c.2433A>C	XP_016859062.1:p.Ser811=
XM_017003574.1:c.2433A>C	XP_016859063.1:p.Ser811=
NM_015040.4:c.3390A>C MANE Select	NP_055855.2:p.Ser1130=