Canonical Allele Identifier: CA431117065

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191036A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326312A>C , CM000664.2:g.208326312A>C	GRCh38
NC_000002.11:g.209191036A>C , CM000664.1:g.209191036A>C	GRCh37
NC_000002.10:g.208899281A>C	NCBI36
NG_021188.1:g.65046A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3501A>C MANE Select	ENSP00000264380.4:p.Ser1167=
ENST00000264380.8:c.3501A>C	ENSP00000264380.4:p.Ser1167=
ENST00000452564.1:c.3333A>C	ENSP00000405736.1:p.Ser1111=
NM_015040.3:c.3501A>C	NP_055855.2:p.Ser1167=
XM_011510778.1:c.3537A>C	XP_011509080.1:p.Ser1179=
XM_011510779.1:c.3537A>C	XP_011509081.1:p.Ser1179=
XM_011510780.1:c.3534A>C	XP_011509082.1:p.Ser1178=
XM_011510781.1:c.3519A>C	XP_011509083.1:p.Ser1173=
XM_011510782.1:c.3537A>C	XP_011509084.1:p.Ser1179=
XM_011510783.1:c.3369A>C	XP_011509085.1:p.Ser1123=
XM_011510784.1:c.3366A>C	XP_011509086.1:p.Ser1122=
XM_011510785.1:c.3351A>C	XP_011509087.1:p.Ser1117=
XM_011510786.1:c.3246A>C	XP_011509088.1:p.Ser1082=
XM_011510787.1:c.3243A>C	XP_011509089.1:p.Ser1081=
XM_011510788.1:c.3210A>C	XP_011509090.1:p.Ser1070=
XM_011510789.1:c.3060A>C	XP_011509091.1:p.Ser1020=
XM_011510790.1:c.2544A>C	XP_011509092.1:p.Ser848=
XM_011510791.1:c.2544A>C	XP_011509093.1:p.Ser848=
XM_011510792.1:c.3537A>C	XP_011509094.1:p.Ser1179=
XR_922888.1:n.3674A>C
XM_011510778.3:c.3537A>C	XP_011509080.1:p.Ser1179=
XM_011510779.2:c.3537A>C	XP_011509081.1:p.Ser1179=
XM_011510780.2:c.3534A>C	XP_011509082.1:p.Ser1178=
XM_011510781.3:c.3519A>C	XP_011509083.1:p.Ser1173=
XM_011510782.3:c.3537A>C	XP_011509084.1:p.Ser1179=
XM_011510783.3:c.3369A>C	XP_011509085.1:p.Ser1123=
XM_011510784.2:c.3366A>C	XP_011509086.1:p.Ser1122=
XM_011510785.3:c.3351A>C	XP_011509087.1:p.Ser1117=
XM_011510786.3:c.3246A>C	XP_011509088.1:p.Ser1082=
XM_011510789.2:c.3060A>C	XP_011509091.1:p.Ser1020=
XM_011510792.3:c.3537A>C	XP_011509094.1:p.Ser1179=
XM_017003568.1:c.3483A>C	XP_016859057.1:p.Ser1161=
XM_017003569.1:c.3315A>C	XP_016859058.1:p.Ser1105=
XM_017003570.1:c.3042A>C	XP_016859059.1:p.Ser1014=
XM_017003571.1:c.2892A>C	XP_016859060.1:p.Ser964=
XM_017003572.1:c.2544A>C	XP_016859061.1:p.Ser848=
XM_017003573.1:c.2544A>C	XP_016859062.1:p.Ser848=
XM_017003574.1:c.2544A>C	XP_016859063.1:p.Ser848=
NM_015040.4:c.3501A>C MANE Select	NP_055855.2:p.Ser1167=