Canonical Allele Identifier: CA350115555

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190978T>G (hg19) ; chr2:g.208326254T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326254T>G , CM000664.2:g.208326254T>G	GRCh38
NC_000002.11:g.209190978T>G , CM000664.1:g.209190978T>G	GRCh37
NC_000002.10:g.208899223T>G	NCBI36
NG_021188.1:g.64988T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3443T>G MANE Select	ENSP00000264380.4:p.Leu1148Trp
ENST00000264380.8:c.3443T>G	ENSP00000264380.4:p.Leu1148Trp
ENST00000452564.1:c.3275T>G	ENSP00000405736.1:p.Leu1092Trp
NM_015040.3:c.3443T>G	NP_055855.2:p.Leu1148Trp
XM_011510778.1:c.3479T>G	XP_011509080.1:p.Leu1160Trp
XM_011510779.1:c.3479T>G	XP_011509081.1:p.Leu1160Trp
XM_011510780.1:c.3476T>G	XP_011509082.1:p.Leu1159Trp
XM_011510781.1:c.3461T>G	XP_011509083.1:p.Leu1154Trp
XM_011510782.1:c.3479T>G	XP_011509084.1:p.Leu1160Trp
XM_011510783.1:c.3311T>G	XP_011509085.1:p.Leu1104Trp
XM_011510784.1:c.3308T>G	XP_011509086.1:p.Leu1103Trp
XM_011510785.1:c.3293T>G	XP_011509087.1:p.Leu1098Trp
XM_011510786.1:c.3188T>G	XP_011509088.1:p.Leu1063Trp
XM_011510787.1:c.3185T>G	XP_011509089.1:p.Leu1062Trp
XM_011510788.1:c.3152T>G	XP_011509090.1:p.Leu1051Trp
XM_011510789.1:c.3002T>G	XP_011509091.1:p.Leu1001Trp
XM_011510790.1:c.2486T>G	XP_011509092.1:p.Leu829Trp
XM_011510791.1:c.2486T>G	XP_011509093.1:p.Leu829Trp
XM_011510792.1:c.3479T>G	XP_011509094.1:p.Leu1160Trp
XR_922888.1:n.3616T>G
XM_011510778.3:c.3479T>G	XP_011509080.1:p.Leu1160Trp
XM_011510779.2:c.3479T>G	XP_011509081.1:p.Leu1160Trp
XM_011510780.2:c.3476T>G	XP_011509082.1:p.Leu1159Trp
XM_011510781.3:c.3461T>G	XP_011509083.1:p.Leu1154Trp
XM_011510782.3:c.3479T>G	XP_011509084.1:p.Leu1160Trp
XM_011510783.3:c.3311T>G	XP_011509085.1:p.Leu1104Trp
XM_011510784.2:c.3308T>G	XP_011509086.1:p.Leu1103Trp
XM_011510785.3:c.3293T>G	XP_011509087.1:p.Leu1098Trp
XM_011510786.3:c.3188T>G	XP_011509088.1:p.Leu1063Trp
XM_011510789.2:c.3002T>G	XP_011509091.1:p.Leu1001Trp
XM_011510792.3:c.3479T>G	XP_011509094.1:p.Leu1160Trp
XM_017003568.1:c.3425T>G	XP_016859057.1:p.Leu1142Trp
XM_017003569.1:c.3257T>G	XP_016859058.1:p.Leu1086Trp
XM_017003570.1:c.2984T>G	XP_016859059.1:p.Leu995Trp
XM_017003571.1:c.2834T>G	XP_016859060.1:p.Leu945Trp
XM_017003572.1:c.2486T>G	XP_016859061.1:p.Leu829Trp
XM_017003573.1:c.2486T>G	XP_016859062.1:p.Leu829Trp
XM_017003574.1:c.2486T>G	XP_016859063.1:p.Leu829Trp
NM_015040.4:c.3443T>G MANE Select	NP_055855.2:p.Leu1148Trp