Canonical Allele Identifier: CA431117045

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326291-A-G
• MyVariant Identifiers: chr2:g.209191015A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326291A>G , CM000664.2:g.208326291A>G	GRCh38
NC_000002.11:g.209191015A>G , CM000664.1:g.209191015A>G	GRCh37
NC_000002.10:g.208899260A>G	NCBI36
NG_021188.1:g.65025A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3480A>G MANE Select	ENSP00000264380.4:p.Gly1160=
ENST00000264380.8:c.3480A>G	ENSP00000264380.4:p.Gly1160=
ENST00000452564.1:c.3312A>G	ENSP00000405736.1:p.Gly1104=
NM_015040.3:c.3480A>G	NP_055855.2:p.Gly1160=
XM_011510778.1:c.3516A>G	XP_011509080.1:p.Gly1172=
XM_011510779.1:c.3516A>G	XP_011509081.1:p.Gly1172=
XM_011510780.1:c.3513A>G	XP_011509082.1:p.Gly1171=
XM_011510781.1:c.3498A>G	XP_011509083.1:p.Gly1166=
XM_011510782.1:c.3516A>G	XP_011509084.1:p.Gly1172=
XM_011510783.1:c.3348A>G	XP_011509085.1:p.Gly1116=
XM_011510784.1:c.3345A>G	XP_011509086.1:p.Gly1115=
XM_011510785.1:c.3330A>G	XP_011509087.1:p.Gly1110=
XM_011510786.1:c.3225A>G	XP_011509088.1:p.Gly1075=
XM_011510787.1:c.3222A>G	XP_011509089.1:p.Gly1074=
XM_011510788.1:c.3189A>G	XP_011509090.1:p.Gly1063=
XM_011510789.1:c.3039A>G	XP_011509091.1:p.Gly1013=
XM_011510790.1:c.2523A>G	XP_011509092.1:p.Gly841=
XM_011510791.1:c.2523A>G	XP_011509093.1:p.Gly841=
XM_011510792.1:c.3516A>G	XP_011509094.1:p.Gly1172=
XR_922888.1:n.3653A>G
XM_011510778.3:c.3516A>G	XP_011509080.1:p.Gly1172=
XM_011510779.2:c.3516A>G	XP_011509081.1:p.Gly1172=
XM_011510780.2:c.3513A>G	XP_011509082.1:p.Gly1171=
XM_011510781.3:c.3498A>G	XP_011509083.1:p.Gly1166=
XM_011510782.3:c.3516A>G	XP_011509084.1:p.Gly1172=
XM_011510783.3:c.3348A>G	XP_011509085.1:p.Gly1116=
XM_011510784.2:c.3345A>G	XP_011509086.1:p.Gly1115=
XM_011510785.3:c.3330A>G	XP_011509087.1:p.Gly1110=
XM_011510786.3:c.3225A>G	XP_011509088.1:p.Gly1075=
XM_011510789.2:c.3039A>G	XP_011509091.1:p.Gly1013=
XM_011510792.3:c.3516A>G	XP_011509094.1:p.Gly1172=
XM_017003568.1:c.3462A>G	XP_016859057.1:p.Gly1154=
XM_017003569.1:c.3294A>G	XP_016859058.1:p.Gly1098=
XM_017003570.1:c.3021A>G	XP_016859059.1:p.Gly1007=
XM_017003571.1:c.2871A>G	XP_016859060.1:p.Gly957=
XM_017003572.1:c.2523A>G	XP_016859061.1:p.Gly841=
XM_017003573.1:c.2523A>G	XP_016859062.1:p.Gly841=
XM_017003574.1:c.2523A>G	XP_016859063.1:p.Gly841=
NM_015040.4:c.3480A>G MANE Select	NP_055855.2:p.Gly1160=