Canonical Allele Identifier: CA350115482

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190947A>C (hg19) ; chr2:g.208326223A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326223A>C , CM000664.2:g.208326223A>C	GRCh38
NC_000002.11:g.209190947A>C , CM000664.1:g.209190947A>C	GRCh37
NC_000002.10:g.208899192A>C	NCBI36
NG_021188.1:g.64957A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3412A>C MANE Select	ENSP00000264380.4:p.Ile1138Leu
ENST00000264380.8:c.3412A>C	ENSP00000264380.4:p.Ile1138Leu
ENST00000452564.1:c.3244A>C	ENSP00000405736.1:p.Ile1082Leu
NM_015040.3:c.3412A>C	NP_055855.2:p.Ile1138Leu
XM_011510778.1:c.3448A>C	XP_011509080.1:p.Ile1150Leu
XM_011510779.1:c.3448A>C	XP_011509081.1:p.Ile1150Leu
XM_011510780.1:c.3445A>C	XP_011509082.1:p.Ile1149Leu
XM_011510781.1:c.3430A>C	XP_011509083.1:p.Ile1144Leu
XM_011510782.1:c.3448A>C	XP_011509084.1:p.Ile1150Leu
XM_011510783.1:c.3280A>C	XP_011509085.1:p.Ile1094Leu
XM_011510784.1:c.3277A>C	XP_011509086.1:p.Ile1093Leu
XM_011510785.1:c.3262A>C	XP_011509087.1:p.Ile1088Leu
XM_011510786.1:c.3157A>C	XP_011509088.1:p.Ile1053Leu
XM_011510787.1:c.3154A>C	XP_011509089.1:p.Ile1052Leu
XM_011510788.1:c.3121A>C	XP_011509090.1:p.Ile1041Leu
XM_011510789.1:c.2971A>C	XP_011509091.1:p.Ile991Leu
XM_011510790.1:c.2455A>C	XP_011509092.1:p.Ile819Leu
XM_011510791.1:c.2455A>C	XP_011509093.1:p.Ile819Leu
XM_011510792.1:c.3448A>C	XP_011509094.1:p.Ile1150Leu
XR_922888.1:n.3585A>C
XM_011510778.3:c.3448A>C	XP_011509080.1:p.Ile1150Leu
XM_011510779.2:c.3448A>C	XP_011509081.1:p.Ile1150Leu
XM_011510780.2:c.3445A>C	XP_011509082.1:p.Ile1149Leu
XM_011510781.3:c.3430A>C	XP_011509083.1:p.Ile1144Leu
XM_011510782.3:c.3448A>C	XP_011509084.1:p.Ile1150Leu
XM_011510783.3:c.3280A>C	XP_011509085.1:p.Ile1094Leu
XM_011510784.2:c.3277A>C	XP_011509086.1:p.Ile1093Leu
XM_011510785.3:c.3262A>C	XP_011509087.1:p.Ile1088Leu
XM_011510786.3:c.3157A>C	XP_011509088.1:p.Ile1053Leu
XM_011510789.2:c.2971A>C	XP_011509091.1:p.Ile991Leu
XM_011510792.3:c.3448A>C	XP_011509094.1:p.Ile1150Leu
XM_017003568.1:c.3394A>C	XP_016859057.1:p.Ile1132Leu
XM_017003569.1:c.3226A>C	XP_016859058.1:p.Ile1076Leu
XM_017003570.1:c.2953A>C	XP_016859059.1:p.Ile985Leu
XM_017003571.1:c.2803A>C	XP_016859060.1:p.Ile935Leu
XM_017003572.1:c.2455A>C	XP_016859061.1:p.Ile819Leu
XM_017003573.1:c.2455A>C	XP_016859062.1:p.Ile819Leu
XM_017003574.1:c.2455A>C	XP_016859063.1:p.Ile819Leu
NM_015040.4:c.3412A>C MANE Select	NP_055855.2:p.Ile1138Leu