Canonical Allele Identifier: CA350115835

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191107A>C (hg19) ; chr2:g.208326383A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326383A>C , CM000664.2:g.208326383A>C	GRCh38
NC_000002.11:g.209191107A>C , CM000664.1:g.209191107A>C	GRCh37
NC_000002.10:g.208899352A>C	NCBI36
NG_021188.1:g.65117A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3572A>C MANE Select	ENSP00000264380.4:p.Asp1191Ala
ENST00000264380.8:c.3572A>C	ENSP00000264380.4:p.Asp1191Ala
ENST00000452564.1:c.3404A>C	ENSP00000405736.1:p.Asp1135Ala
NM_015040.3:c.3572A>C	NP_055855.2:p.Asp1191Ala
XM_011510778.1:c.3608A>C	XP_011509080.1:p.Asp1203Ala
XM_011510779.1:c.3608A>C	XP_011509081.1:p.Asp1203Ala
XM_011510780.1:c.3605A>C	XP_011509082.1:p.Asp1202Ala
XM_011510781.1:c.3590A>C	XP_011509083.1:p.Asp1197Ala
XM_011510782.1:c.3608A>C	XP_011509084.1:p.Asp1203Ala
XM_011510783.1:c.3440A>C	XP_011509085.1:p.Asp1147Ala
XM_011510784.1:c.3437A>C	XP_011509086.1:p.Asp1146Ala
XM_011510785.1:c.3422A>C	XP_011509087.1:p.Asp1141Ala
XM_011510786.1:c.3317A>C	XP_011509088.1:p.Asp1106Ala
XM_011510787.1:c.3314A>C	XP_011509089.1:p.Asp1105Ala
XM_011510788.1:c.3281A>C	XP_011509090.1:p.Asp1094Ala
XM_011510789.1:c.3131A>C	XP_011509091.1:p.Asp1044Ala
XM_011510790.1:c.2615A>C	XP_011509092.1:p.Asp872Ala
XM_011510791.1:c.2615A>C	XP_011509093.1:p.Asp872Ala
XM_011510792.1:c.3608A>C	XP_011509094.1:p.Asp1203Ala
XR_922888.1:n.3745A>C
XM_011510778.3:c.3608A>C	XP_011509080.1:p.Asp1203Ala
XM_011510779.2:c.3608A>C	XP_011509081.1:p.Asp1203Ala
XM_011510780.2:c.3605A>C	XP_011509082.1:p.Asp1202Ala
XM_011510781.3:c.3590A>C	XP_011509083.1:p.Asp1197Ala
XM_011510782.3:c.3608A>C	XP_011509084.1:p.Asp1203Ala
XM_011510783.3:c.3440A>C	XP_011509085.1:p.Asp1147Ala
XM_011510784.2:c.3437A>C	XP_011509086.1:p.Asp1146Ala
XM_011510785.3:c.3422A>C	XP_011509087.1:p.Asp1141Ala
XM_011510786.3:c.3317A>C	XP_011509088.1:p.Asp1106Ala
XM_011510789.2:c.3131A>C	XP_011509091.1:p.Asp1044Ala
XM_011510792.3:c.3608A>C	XP_011509094.1:p.Asp1203Ala
XM_017003568.1:c.3554A>C	XP_016859057.1:p.Asp1185Ala
XM_017003569.1:c.3386A>C	XP_016859058.1:p.Asp1129Ala
XM_017003570.1:c.3113A>C	XP_016859059.1:p.Asp1038Ala
XM_017003571.1:c.2963A>C	XP_016859060.1:p.Asp988Ala
XM_017003572.1:c.2615A>C	XP_016859061.1:p.Asp872Ala
XM_017003573.1:c.2615A>C	XP_016859062.1:p.Asp872Ala
XM_017003574.1:c.2615A>C	XP_016859063.1:p.Asp872Ala
NM_015040.4:c.3572A>C MANE Select	NP_055855.2:p.Asp1191Ala