Canonical Allele Identifier: CA350115633

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326292-A-G
• MyVariant Identifiers: chr2:g.209191016A>G (hg19) ; chr2:g.208326292A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326292A>G , CM000664.2:g.208326292A>G	GRCh38
NC_000002.11:g.209191016A>G , CM000664.1:g.209191016A>G	GRCh37
NC_000002.10:g.208899261A>G	NCBI36
NG_021188.1:g.65026A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3481A>G MANE Select	ENSP00000264380.4:p.Arg1161Gly
ENST00000264380.8:c.3481A>G	ENSP00000264380.4:p.Arg1161Gly
ENST00000452564.1:c.3313A>G	ENSP00000405736.1:p.Arg1105Gly
NM_015040.3:c.3481A>G	NP_055855.2:p.Arg1161Gly
XM_011510778.1:c.3517A>G	XP_011509080.1:p.Arg1173Gly
XM_011510779.1:c.3517A>G	XP_011509081.1:p.Arg1173Gly
XM_011510780.1:c.3514A>G	XP_011509082.1:p.Arg1172Gly
XM_011510781.1:c.3499A>G	XP_011509083.1:p.Arg1167Gly
XM_011510782.1:c.3517A>G	XP_011509084.1:p.Arg1173Gly
XM_011510783.1:c.3349A>G	XP_011509085.1:p.Arg1117Gly
XM_011510784.1:c.3346A>G	XP_011509086.1:p.Arg1116Gly
XM_011510785.1:c.3331A>G	XP_011509087.1:p.Arg1111Gly
XM_011510786.1:c.3226A>G	XP_011509088.1:p.Arg1076Gly
XM_011510787.1:c.3223A>G	XP_011509089.1:p.Arg1075Gly
XM_011510788.1:c.3190A>G	XP_011509090.1:p.Arg1064Gly
XM_011510789.1:c.3040A>G	XP_011509091.1:p.Arg1014Gly
XM_011510790.1:c.2524A>G	XP_011509092.1:p.Arg842Gly
XM_011510791.1:c.2524A>G	XP_011509093.1:p.Arg842Gly
XM_011510792.1:c.3517A>G	XP_011509094.1:p.Arg1173Gly
XR_922888.1:n.3654A>G
XM_011510778.3:c.3517A>G	XP_011509080.1:p.Arg1173Gly
XM_011510779.2:c.3517A>G	XP_011509081.1:p.Arg1173Gly
XM_011510780.2:c.3514A>G	XP_011509082.1:p.Arg1172Gly
XM_011510781.3:c.3499A>G	XP_011509083.1:p.Arg1167Gly
XM_011510782.3:c.3517A>G	XP_011509084.1:p.Arg1173Gly
XM_011510783.3:c.3349A>G	XP_011509085.1:p.Arg1117Gly
XM_011510784.2:c.3346A>G	XP_011509086.1:p.Arg1116Gly
XM_011510785.3:c.3331A>G	XP_011509087.1:p.Arg1111Gly
XM_011510786.3:c.3226A>G	XP_011509088.1:p.Arg1076Gly
XM_011510789.2:c.3040A>G	XP_011509091.1:p.Arg1014Gly
XM_011510792.3:c.3517A>G	XP_011509094.1:p.Arg1173Gly
XM_017003568.1:c.3463A>G	XP_016859057.1:p.Arg1155Gly
XM_017003569.1:c.3295A>G	XP_016859058.1:p.Arg1099Gly
XM_017003570.1:c.3022A>G	XP_016859059.1:p.Arg1008Gly
XM_017003571.1:c.2872A>G	XP_016859060.1:p.Arg958Gly
XM_017003572.1:c.2524A>G	XP_016859061.1:p.Arg842Gly
XM_017003573.1:c.2524A>G	XP_016859062.1:p.Arg842Gly
XM_017003574.1:c.2524A>G	XP_016859063.1:p.Arg842Gly
NM_015040.4:c.3481A>G MANE Select	NP_055855.2:p.Arg1161Gly