Canonical Allele Identifier: CA350115662

Gene: PIKFYVE

Linked Data

• COSMIC: COSM4714488
• MyVariant Identifiers: chr2:g.209191029A>C (hg19) ; chr2:g.208326305A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326305A>C , CM000664.2:g.208326305A>C	GRCh38
NC_000002.11:g.209191029A>C , CM000664.1:g.209191029A>C	GRCh37
NC_000002.10:g.208899274A>C	NCBI36
NG_021188.1:g.65039A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3494A>C MANE Select	ENSP00000264380.4:p.Lys1165Thr
ENST00000264380.8:c.3494A>C	ENSP00000264380.4:p.Lys1165Thr
ENST00000452564.1:c.3326A>C	ENSP00000405736.1:p.Lys1109Thr
NM_015040.3:c.3494A>C	NP_055855.2:p.Lys1165Thr
XM_011510778.1:c.3530A>C	XP_011509080.1:p.Lys1177Thr
XM_011510779.1:c.3530A>C	XP_011509081.1:p.Lys1177Thr
XM_011510780.1:c.3527A>C	XP_011509082.1:p.Lys1176Thr
XM_011510781.1:c.3512A>C	XP_011509083.1:p.Lys1171Thr
XM_011510782.1:c.3530A>C	XP_011509084.1:p.Lys1177Thr
XM_011510783.1:c.3362A>C	XP_011509085.1:p.Lys1121Thr
XM_011510784.1:c.3359A>C	XP_011509086.1:p.Lys1120Thr
XM_011510785.1:c.3344A>C	XP_011509087.1:p.Lys1115Thr
XM_011510786.1:c.3239A>C	XP_011509088.1:p.Lys1080Thr
XM_011510787.1:c.3236A>C	XP_011509089.1:p.Lys1079Thr
XM_011510788.1:c.3203A>C	XP_011509090.1:p.Lys1068Thr
XM_011510789.1:c.3053A>C	XP_011509091.1:p.Lys1018Thr
XM_011510790.1:c.2537A>C	XP_011509092.1:p.Lys846Thr
XM_011510791.1:c.2537A>C	XP_011509093.1:p.Lys846Thr
XM_011510792.1:c.3530A>C	XP_011509094.1:p.Lys1177Thr
XR_922888.1:n.3667A>C
XM_011510778.3:c.3530A>C	XP_011509080.1:p.Lys1177Thr
XM_011510779.2:c.3530A>C	XP_011509081.1:p.Lys1177Thr
XM_011510780.2:c.3527A>C	XP_011509082.1:p.Lys1176Thr
XM_011510781.3:c.3512A>C	XP_011509083.1:p.Lys1171Thr
XM_011510782.3:c.3530A>C	XP_011509084.1:p.Lys1177Thr
XM_011510783.3:c.3362A>C	XP_011509085.1:p.Lys1121Thr
XM_011510784.2:c.3359A>C	XP_011509086.1:p.Lys1120Thr
XM_011510785.3:c.3344A>C	XP_011509087.1:p.Lys1115Thr
XM_011510786.3:c.3239A>C	XP_011509088.1:p.Lys1080Thr
XM_011510789.2:c.3053A>C	XP_011509091.1:p.Lys1018Thr
XM_011510792.3:c.3530A>C	XP_011509094.1:p.Lys1177Thr
XM_017003568.1:c.3476A>C	XP_016859057.1:p.Lys1159Thr
XM_017003569.1:c.3308A>C	XP_016859058.1:p.Lys1103Thr
XM_017003570.1:c.3035A>C	XP_016859059.1:p.Lys1012Thr
XM_017003571.1:c.2885A>C	XP_016859060.1:p.Lys962Thr
XM_017003572.1:c.2537A>C	XP_016859061.1:p.Lys846Thr
XM_017003573.1:c.2537A>C	XP_016859062.1:p.Lys846Thr
XM_017003574.1:c.2537A>C	XP_016859063.1:p.Lys846Thr
NM_015040.4:c.3494A>C MANE Select	NP_055855.2:p.Lys1165Thr