Canonical Allele Identifier: CA350115613

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191005C>G (hg19) ; chr2:g.208326281C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326281C>G , CM000664.2:g.208326281C>G	GRCh38
NC_000002.11:g.209191005C>G , CM000664.1:g.209191005C>G	GRCh37
NC_000002.10:g.208899250C>G	NCBI36
NG_021188.1:g.65015C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3470C>G MANE Select	ENSP00000264380.4:p.Ala1157Gly
ENST00000264380.8:c.3470C>G	ENSP00000264380.4:p.Ala1157Gly
ENST00000452564.1:c.3302C>G	ENSP00000405736.1:p.Ala1101Gly
NM_015040.3:c.3470C>G	NP_055855.2:p.Ala1157Gly
XM_011510778.1:c.3506C>G	XP_011509080.1:p.Ala1169Gly
XM_011510779.1:c.3506C>G	XP_011509081.1:p.Ala1169Gly
XM_011510780.1:c.3503C>G	XP_011509082.1:p.Ala1168Gly
XM_011510781.1:c.3488C>G	XP_011509083.1:p.Ala1163Gly
XM_011510782.1:c.3506C>G	XP_011509084.1:p.Ala1169Gly
XM_011510783.1:c.3338C>G	XP_011509085.1:p.Ala1113Gly
XM_011510784.1:c.3335C>G	XP_011509086.1:p.Ala1112Gly
XM_011510785.1:c.3320C>G	XP_011509087.1:p.Ala1107Gly
XM_011510786.1:c.3215C>G	XP_011509088.1:p.Ala1072Gly
XM_011510787.1:c.3212C>G	XP_011509089.1:p.Ala1071Gly
XM_011510788.1:c.3179C>G	XP_011509090.1:p.Ala1060Gly
XM_011510789.1:c.3029C>G	XP_011509091.1:p.Ala1010Gly
XM_011510790.1:c.2513C>G	XP_011509092.1:p.Ala838Gly
XM_011510791.1:c.2513C>G	XP_011509093.1:p.Ala838Gly
XM_011510792.1:c.3506C>G	XP_011509094.1:p.Ala1169Gly
XR_922888.1:n.3643C>G
XM_011510778.3:c.3506C>G	XP_011509080.1:p.Ala1169Gly
XM_011510779.2:c.3506C>G	XP_011509081.1:p.Ala1169Gly
XM_011510780.2:c.3503C>G	XP_011509082.1:p.Ala1168Gly
XM_011510781.3:c.3488C>G	XP_011509083.1:p.Ala1163Gly
XM_011510782.3:c.3506C>G	XP_011509084.1:p.Ala1169Gly
XM_011510783.3:c.3338C>G	XP_011509085.1:p.Ala1113Gly
XM_011510784.2:c.3335C>G	XP_011509086.1:p.Ala1112Gly
XM_011510785.3:c.3320C>G	XP_011509087.1:p.Ala1107Gly
XM_011510786.3:c.3215C>G	XP_011509088.1:p.Ala1072Gly
XM_011510789.2:c.3029C>G	XP_011509091.1:p.Ala1010Gly
XM_011510792.3:c.3506C>G	XP_011509094.1:p.Ala1169Gly
XM_017003568.1:c.3452C>G	XP_016859057.1:p.Ala1151Gly
XM_017003569.1:c.3284C>G	XP_016859058.1:p.Ala1095Gly
XM_017003570.1:c.3011C>G	XP_016859059.1:p.Ala1004Gly
XM_017003571.1:c.2861C>G	XP_016859060.1:p.Ala954Gly
XM_017003572.1:c.2513C>G	XP_016859061.1:p.Ala838Gly
XM_017003573.1:c.2513C>G	XP_016859062.1:p.Ala838Gly
XM_017003574.1:c.2513C>G	XP_016859063.1:p.Ala838Gly
NM_015040.4:c.3470C>G MANE Select	NP_055855.2:p.Ala1157Gly