Canonical Allele Identifier: CA350115830

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs1696922784
• gnomAD v4: 2-208326380-G-C
• MyVariant Identifiers: chr2:g.209191104G>C (hg19) ; chr2:g.208326380G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326380G>C , CM000664.2:g.208326380G>C	GRCh38
NC_000002.11:g.209191104G>C , CM000664.1:g.209191104G>C	GRCh37
NC_000002.10:g.208899349G>C	NCBI36
NG_021188.1:g.65114G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3569G>C MANE Select	ENSP00000264380.4:p.Gly1190Ala
ENST00000264380.8:c.3569G>C	ENSP00000264380.4:p.Gly1190Ala
ENST00000452564.1:c.3401G>C	ENSP00000405736.1:p.Gly1134Ala
NM_015040.3:c.3569G>C	NP_055855.2:p.Gly1190Ala
XM_011510778.1:c.3605G>C	XP_011509080.1:p.Gly1202Ala
XM_011510779.1:c.3605G>C	XP_011509081.1:p.Gly1202Ala
XM_011510780.1:c.3602G>C	XP_011509082.1:p.Gly1201Ala
XM_011510781.1:c.3587G>C	XP_011509083.1:p.Gly1196Ala
XM_011510782.1:c.3605G>C	XP_011509084.1:p.Gly1202Ala
XM_011510783.1:c.3437G>C	XP_011509085.1:p.Gly1146Ala
XM_011510784.1:c.3434G>C	XP_011509086.1:p.Gly1145Ala
XM_011510785.1:c.3419G>C	XP_011509087.1:p.Gly1140Ala
XM_011510786.1:c.3314G>C	XP_011509088.1:p.Gly1105Ala
XM_011510787.1:c.3311G>C	XP_011509089.1:p.Gly1104Ala
XM_011510788.1:c.3278G>C	XP_011509090.1:p.Gly1093Ala
XM_011510789.1:c.3128G>C	XP_011509091.1:p.Gly1043Ala
XM_011510790.1:c.2612G>C	XP_011509092.1:p.Gly871Ala
XM_011510791.1:c.2612G>C	XP_011509093.1:p.Gly871Ala
XM_011510792.1:c.3605G>C	XP_011509094.1:p.Gly1202Ala
XR_922888.1:n.3742G>C
XM_011510778.3:c.3605G>C	XP_011509080.1:p.Gly1202Ala
XM_011510779.2:c.3605G>C	XP_011509081.1:p.Gly1202Ala
XM_011510780.2:c.3602G>C	XP_011509082.1:p.Gly1201Ala
XM_011510781.3:c.3587G>C	XP_011509083.1:p.Gly1196Ala
XM_011510782.3:c.3605G>C	XP_011509084.1:p.Gly1202Ala
XM_011510783.3:c.3437G>C	XP_011509085.1:p.Gly1146Ala
XM_011510784.2:c.3434G>C	XP_011509086.1:p.Gly1145Ala
XM_011510785.3:c.3419G>C	XP_011509087.1:p.Gly1140Ala
XM_011510786.3:c.3314G>C	XP_011509088.1:p.Gly1105Ala
XM_011510789.2:c.3128G>C	XP_011509091.1:p.Gly1043Ala
XM_011510792.3:c.3605G>C	XP_011509094.1:p.Gly1202Ala
XM_017003568.1:c.3551G>C	XP_016859057.1:p.Gly1184Ala
XM_017003569.1:c.3383G>C	XP_016859058.1:p.Gly1128Ala
XM_017003570.1:c.3110G>C	XP_016859059.1:p.Gly1037Ala
XM_017003571.1:c.2960G>C	XP_016859060.1:p.Gly987Ala
XM_017003572.1:c.2612G>C	XP_016859061.1:p.Gly871Ala
XM_017003573.1:c.2612G>C	XP_016859062.1:p.Gly871Ala
XM_017003574.1:c.2612G>C	XP_016859063.1:p.Gly871Ala
NM_015040.4:c.3569G>C MANE Select	NP_055855.2:p.Gly1190Ala