Canonical Allele Identifier: CA2079467

Gene: PIKFYVE

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208301092A>G , CM000664.2:g.208301092A>G	GRCh38
NC_000002.11:g.209165816A>G , CM000664.1:g.209165816A>G	GRCh37
NC_000002.10:g.208874061A>G	NCBI36
NG_021188.1:g.39826A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015040.4:c.1206A>G MANE Select	NP_055855.2:p.Thr402=
ENST00000264380.9:c.1206A>G MANE Select	ENSP00000264380.4:p.Thr402=
NM_001178000.1:c.1206A>G	NP_001171471.1:p.Thr402=
NM_001178000.2:c.1206A>G	NP_001171471.1:p.Thr402=
NM_015040.3:c.1206A>G	NP_055855.2:p.Thr402=
NM_152671.3:c.915A>G	NP_689884.1:p.Thr305=
NM_152671.4:c.915A>G	NP_689884.1:p.Thr305=
ENST00000264380.8:c.1206A>G	ENSP00000264380.4:p.Thr402=
ENST00000308862.10:c.948A>G	ENSP00000308715.6:p.Thr316=
ENST00000392202.7:c.915A>G	ENSP00000376038.3:p.Thr305=
ENST00000407449.5:c.1206A>G	ENSP00000384356.1:p.Thr402=
ENST00000443896.5:c.*557A>G	ENSP00000407692.1:n.*557A>G
ENST00000452564.1:c.1206A>G	ENSP00000405736.1:p.Thr402=
ENST00000477200.1:n.295A>G
XM_011510778.1:c.1242A>G	XP_011509080.1:p.Thr414=
XM_011510778.3:c.1242A>G	XP_011509080.1:p.Thr414=
XM_011510779.1:c.1242A>G	XP_011509081.1:p.Thr414=
XM_011510779.2:c.1242A>G	XP_011509081.1:p.Thr414=
XM_011510780.1:c.1239A>G	XP_011509082.1:p.Thr413=
XM_011510780.2:c.1239A>G	XP_011509082.1:p.Thr413=
XM_011510781.1:c.1242A>G	XP_011509083.1:p.Thr414=
XM_011510781.3:c.1242A>G	XP_011509083.1:p.Thr414=
XM_011510782.1:c.1242A>G	XP_011509084.1:p.Thr414=
XM_011510782.3:c.1242A>G	XP_011509084.1:p.Thr414=
XM_011510783.1:c.1242A>G	XP_011509085.1:p.Thr414=
XM_011510783.3:c.1242A>G	XP_011509085.1:p.Thr414=
XM_011510784.1:c.1239A>G	XP_011509086.1:p.Thr413=
XM_011510784.2:c.1239A>G	XP_011509086.1:p.Thr413=
XM_011510785.1:c.1242A>G	XP_011509087.1:p.Thr414=
XM_011510785.3:c.1242A>G	XP_011509087.1:p.Thr414=
XM_011510786.1:c.951A>G	XP_011509088.1:p.Thr317=
XM_011510786.3:c.951A>G	XP_011509088.1:p.Thr317=
XM_011510787.1:c.948A>G	XP_011509089.1:p.Thr316=
XM_011510788.1:c.915A>G	XP_011509090.1:p.Thr305=
XM_011510789.1:c.765A>G	XP_011509091.1:p.Thr255=
XM_011510789.2:c.765A>G	XP_011509091.1:p.Thr255=
XM_011510790.1:c.249A>G	XP_011509092.1:p.Thr83=
XM_011510791.1:c.249A>G	XP_011509093.1:p.Thr83=
XM_011510792.1:c.1242A>G	XP_011509094.1:p.Thr414=
XM_011510792.3:c.1242A>G	XP_011509094.1:p.Thr414=
XM_017003568.1:c.1206A>G	XP_016859057.1:p.Thr402=
XM_017003569.1:c.1206A>G	XP_016859058.1:p.Thr402=
XM_017003570.1:c.915A>G	XP_016859059.1:p.Thr305=
XM_017003571.1:c.765A>G	XP_016859060.1:p.Thr255=
XM_017003572.1:c.249A>G	XP_016859061.1:p.Thr83=
XM_017003573.1:c.249A>G	XP_016859062.1:p.Thr83=
XM_017003574.1:c.249A>G	XP_016859063.1:p.Thr83=
XR_922888.1:n.1379A>G