Canonical Allele Identifier: CA431117670

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190937G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326213G>C , CM000664.2:g.208326213G>C	GRCh38
NC_000002.11:g.209190937G>C , CM000664.1:g.209190937G>C	GRCh37
NC_000002.10:g.208899182G>C	NCBI36
NG_021188.1:g.64947G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3402G>C MANE Select	ENSP00000264380.4:p.Val1134=
ENST00000264380.8:c.3402G>C	ENSP00000264380.4:p.Val1134=
ENST00000452564.1:c.3234G>C	ENSP00000405736.1:p.Val1078=
NM_015040.3:c.3402G>C	NP_055855.2:p.Val1134=
XM_011510778.1:c.3438G>C	XP_011509080.1:p.Val1146=
XM_011510779.1:c.3438G>C	XP_011509081.1:p.Val1146=
XM_011510780.1:c.3435G>C	XP_011509082.1:p.Val1145=
XM_011510781.1:c.3420G>C	XP_011509083.1:p.Val1140=
XM_011510782.1:c.3438G>C	XP_011509084.1:p.Val1146=
XM_011510783.1:c.3270G>C	XP_011509085.1:p.Val1090=
XM_011510784.1:c.3267G>C	XP_011509086.1:p.Val1089=
XM_011510785.1:c.3252G>C	XP_011509087.1:p.Val1084=
XM_011510786.1:c.3147G>C	XP_011509088.1:p.Val1049=
XM_011510787.1:c.3144G>C	XP_011509089.1:p.Val1048=
XM_011510788.1:c.3111G>C	XP_011509090.1:p.Val1037=
XM_011510789.1:c.2961G>C	XP_011509091.1:p.Val987=
XM_011510790.1:c.2445G>C	XP_011509092.1:p.Val815=
XM_011510791.1:c.2445G>C	XP_011509093.1:p.Val815=
XM_011510792.1:c.3438G>C	XP_011509094.1:p.Val1146=
XR_922888.1:n.3575G>C
XM_011510778.3:c.3438G>C	XP_011509080.1:p.Val1146=
XM_011510779.2:c.3438G>C	XP_011509081.1:p.Val1146=
XM_011510780.2:c.3435G>C	XP_011509082.1:p.Val1145=
XM_011510781.3:c.3420G>C	XP_011509083.1:p.Val1140=
XM_011510782.3:c.3438G>C	XP_011509084.1:p.Val1146=
XM_011510783.3:c.3270G>C	XP_011509085.1:p.Val1090=
XM_011510784.2:c.3267G>C	XP_011509086.1:p.Val1089=
XM_011510785.3:c.3252G>C	XP_011509087.1:p.Val1084=
XM_011510786.3:c.3147G>C	XP_011509088.1:p.Val1049=
XM_011510789.2:c.2961G>C	XP_011509091.1:p.Val987=
XM_011510792.3:c.3438G>C	XP_011509094.1:p.Val1146=
XM_017003568.1:c.3384G>C	XP_016859057.1:p.Val1128=
XM_017003569.1:c.3216G>C	XP_016859058.1:p.Val1072=
XM_017003570.1:c.2943G>C	XP_016859059.1:p.Val981=
XM_017003571.1:c.2793G>C	XP_016859060.1:p.Val931=
XM_017003572.1:c.2445G>C	XP_016859061.1:p.Val815=
XM_017003573.1:c.2445G>C	XP_016859062.1:p.Val815=
XM_017003574.1:c.2445G>C	XP_016859063.1:p.Val815=
NM_015040.4:c.3402G>C MANE Select	NP_055855.2:p.Val1134=