Canonical Allele Identifier: CA431117692

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190949T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326225T>C , CM000664.2:g.208326225T>C	GRCh38
NC_000002.11:g.209190949T>C , CM000664.1:g.209190949T>C	GRCh37
NC_000002.10:g.208899194T>C	NCBI36
NG_021188.1:g.64959T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3414T>C MANE Select	ENSP00000264380.4:p.Ile1138=
ENST00000264380.8:c.3414T>C	ENSP00000264380.4:p.Ile1138=
ENST00000452564.1:c.3246T>C	ENSP00000405736.1:p.Ile1082=
NM_015040.3:c.3414T>C	NP_055855.2:p.Ile1138=
XM_011510778.1:c.3450T>C	XP_011509080.1:p.Ile1150=
XM_011510779.1:c.3450T>C	XP_011509081.1:p.Ile1150=
XM_011510780.1:c.3447T>C	XP_011509082.1:p.Ile1149=
XM_011510781.1:c.3432T>C	XP_011509083.1:p.Ile1144=
XM_011510782.1:c.3450T>C	XP_011509084.1:p.Ile1150=
XM_011510783.1:c.3282T>C	XP_011509085.1:p.Ile1094=
XM_011510784.1:c.3279T>C	XP_011509086.1:p.Ile1093=
XM_011510785.1:c.3264T>C	XP_011509087.1:p.Ile1088=
XM_011510786.1:c.3159T>C	XP_011509088.1:p.Ile1053=
XM_011510787.1:c.3156T>C	XP_011509089.1:p.Ile1052=
XM_011510788.1:c.3123T>C	XP_011509090.1:p.Ile1041=
XM_011510789.1:c.2973T>C	XP_011509091.1:p.Ile991=
XM_011510790.1:c.2457T>C	XP_011509092.1:p.Ile819=
XM_011510791.1:c.2457T>C	XP_011509093.1:p.Ile819=
XM_011510792.1:c.3450T>C	XP_011509094.1:p.Ile1150=
XR_922888.1:n.3587T>C
XM_011510778.3:c.3450T>C	XP_011509080.1:p.Ile1150=
XM_011510779.2:c.3450T>C	XP_011509081.1:p.Ile1150=
XM_011510780.2:c.3447T>C	XP_011509082.1:p.Ile1149=
XM_011510781.3:c.3432T>C	XP_011509083.1:p.Ile1144=
XM_011510782.3:c.3450T>C	XP_011509084.1:p.Ile1150=
XM_011510783.3:c.3282T>C	XP_011509085.1:p.Ile1094=
XM_011510784.2:c.3279T>C	XP_011509086.1:p.Ile1093=
XM_011510785.3:c.3264T>C	XP_011509087.1:p.Ile1088=
XM_011510786.3:c.3159T>C	XP_011509088.1:p.Ile1053=
XM_011510789.2:c.2973T>C	XP_011509091.1:p.Ile991=
XM_011510792.3:c.3450T>C	XP_011509094.1:p.Ile1150=
XM_017003568.1:c.3396T>C	XP_016859057.1:p.Ile1132=
XM_017003569.1:c.3228T>C	XP_016859058.1:p.Ile1076=
XM_017003570.1:c.2955T>C	XP_016859059.1:p.Ile985=
XM_017003571.1:c.2805T>C	XP_016859060.1:p.Ile935=
XM_017003572.1:c.2457T>C	XP_016859061.1:p.Ile819=
XM_017003573.1:c.2457T>C	XP_016859062.1:p.Ile819=
XM_017003574.1:c.2457T>C	XP_016859063.1:p.Ile819=
NM_015040.4:c.3414T>C MANE Select	NP_055855.2:p.Ile1138=