Canonical Allele Identifier: CA350115675

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191034T>G (hg19) ; chr2:g.208326310T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326310T>G , CM000664.2:g.208326310T>G	GRCh38
NC_000002.11:g.209191034T>G , CM000664.1:g.209191034T>G	GRCh37
NC_000002.10:g.208899279T>G	NCBI36
NG_021188.1:g.65044T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3499T>G MANE Select	ENSP00000264380.4:p.Ser1167Ala
ENST00000264380.8:c.3499T>G	ENSP00000264380.4:p.Ser1167Ala
ENST00000452564.1:c.3331T>G	ENSP00000405736.1:p.Ser1111Ala
NM_015040.3:c.3499T>G	NP_055855.2:p.Ser1167Ala
XM_011510778.1:c.3535T>G	XP_011509080.1:p.Ser1179Ala
XM_011510779.1:c.3535T>G	XP_011509081.1:p.Ser1179Ala
XM_011510780.1:c.3532T>G	XP_011509082.1:p.Ser1178Ala
XM_011510781.1:c.3517T>G	XP_011509083.1:p.Ser1173Ala
XM_011510782.1:c.3535T>G	XP_011509084.1:p.Ser1179Ala
XM_011510783.1:c.3367T>G	XP_011509085.1:p.Ser1123Ala
XM_011510784.1:c.3364T>G	XP_011509086.1:p.Ser1122Ala
XM_011510785.1:c.3349T>G	XP_011509087.1:p.Ser1117Ala
XM_011510786.1:c.3244T>G	XP_011509088.1:p.Ser1082Ala
XM_011510787.1:c.3241T>G	XP_011509089.1:p.Ser1081Ala
XM_011510788.1:c.3208T>G	XP_011509090.1:p.Ser1070Ala
XM_011510789.1:c.3058T>G	XP_011509091.1:p.Ser1020Ala
XM_011510790.1:c.2542T>G	XP_011509092.1:p.Ser848Ala
XM_011510791.1:c.2542T>G	XP_011509093.1:p.Ser848Ala
XM_011510792.1:c.3535T>G	XP_011509094.1:p.Ser1179Ala
XR_922888.1:n.3672T>G
XM_011510778.3:c.3535T>G	XP_011509080.1:p.Ser1179Ala
XM_011510779.2:c.3535T>G	XP_011509081.1:p.Ser1179Ala
XM_011510780.2:c.3532T>G	XP_011509082.1:p.Ser1178Ala
XM_011510781.3:c.3517T>G	XP_011509083.1:p.Ser1173Ala
XM_011510782.3:c.3535T>G	XP_011509084.1:p.Ser1179Ala
XM_011510783.3:c.3367T>G	XP_011509085.1:p.Ser1123Ala
XM_011510784.2:c.3364T>G	XP_011509086.1:p.Ser1122Ala
XM_011510785.3:c.3349T>G	XP_011509087.1:p.Ser1117Ala
XM_011510786.3:c.3244T>G	XP_011509088.1:p.Ser1082Ala
XM_011510789.2:c.3058T>G	XP_011509091.1:p.Ser1020Ala
XM_011510792.3:c.3535T>G	XP_011509094.1:p.Ser1179Ala
XM_017003568.1:c.3481T>G	XP_016859057.1:p.Ser1161Ala
XM_017003569.1:c.3313T>G	XP_016859058.1:p.Ser1105Ala
XM_017003570.1:c.3040T>G	XP_016859059.1:p.Ser1014Ala
XM_017003571.1:c.2890T>G	XP_016859060.1:p.Ser964Ala
XM_017003572.1:c.2542T>G	XP_016859061.1:p.Ser848Ala
XM_017003573.1:c.2542T>G	XP_016859062.1:p.Ser848Ala
XM_017003574.1:c.2542T>G	XP_016859063.1:p.Ser848Ala
NM_015040.4:c.3499T>G MANE Select	NP_055855.2:p.Ser1167Ala