Canonical Allele Identifier: CA350115550

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190976C>G (hg19) ; chr2:g.208326252C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326252C>G , CM000664.2:g.208326252C>G	GRCh38
NC_000002.11:g.209190976C>G , CM000664.1:g.209190976C>G	GRCh37
NC_000002.10:g.208899221C>G	NCBI36
NG_021188.1:g.64986C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3441C>G MANE Select	ENSP00000264380.4:p.Ser1147Arg
ENST00000264380.8:c.3441C>G	ENSP00000264380.4:p.Ser1147Arg
ENST00000452564.1:c.3273C>G	ENSP00000405736.1:p.Ser1091Arg
NM_015040.3:c.3441C>G	NP_055855.2:p.Ser1147Arg
XM_011510778.1:c.3477C>G	XP_011509080.1:p.Ser1159Arg
XM_011510779.1:c.3477C>G	XP_011509081.1:p.Ser1159Arg
XM_011510780.1:c.3474C>G	XP_011509082.1:p.Ser1158Arg
XM_011510781.1:c.3459C>G	XP_011509083.1:p.Ser1153Arg
XM_011510782.1:c.3477C>G	XP_011509084.1:p.Ser1159Arg
XM_011510783.1:c.3309C>G	XP_011509085.1:p.Ser1103Arg
XM_011510784.1:c.3306C>G	XP_011509086.1:p.Ser1102Arg
XM_011510785.1:c.3291C>G	XP_011509087.1:p.Ser1097Arg
XM_011510786.1:c.3186C>G	XP_011509088.1:p.Ser1062Arg
XM_011510787.1:c.3183C>G	XP_011509089.1:p.Ser1061Arg
XM_011510788.1:c.3150C>G	XP_011509090.1:p.Ser1050Arg
XM_011510789.1:c.3000C>G	XP_011509091.1:p.Ser1000Arg
XM_011510790.1:c.2484C>G	XP_011509092.1:p.Ser828Arg
XM_011510791.1:c.2484C>G	XP_011509093.1:p.Ser828Arg
XM_011510792.1:c.3477C>G	XP_011509094.1:p.Ser1159Arg
XR_922888.1:n.3614C>G
XM_011510778.3:c.3477C>G	XP_011509080.1:p.Ser1159Arg
XM_011510779.2:c.3477C>G	XP_011509081.1:p.Ser1159Arg
XM_011510780.2:c.3474C>G	XP_011509082.1:p.Ser1158Arg
XM_011510781.3:c.3459C>G	XP_011509083.1:p.Ser1153Arg
XM_011510782.3:c.3477C>G	XP_011509084.1:p.Ser1159Arg
XM_011510783.3:c.3309C>G	XP_011509085.1:p.Ser1103Arg
XM_011510784.2:c.3306C>G	XP_011509086.1:p.Ser1102Arg
XM_011510785.3:c.3291C>G	XP_011509087.1:p.Ser1097Arg
XM_011510786.3:c.3186C>G	XP_011509088.1:p.Ser1062Arg
XM_011510789.2:c.3000C>G	XP_011509091.1:p.Ser1000Arg
XM_011510792.3:c.3477C>G	XP_011509094.1:p.Ser1159Arg
XM_017003568.1:c.3423C>G	XP_016859057.1:p.Ser1141Arg
XM_017003569.1:c.3255C>G	XP_016859058.1:p.Ser1085Arg
XM_017003570.1:c.2982C>G	XP_016859059.1:p.Ser994Arg
XM_017003571.1:c.2832C>G	XP_016859060.1:p.Ser944Arg
XM_017003572.1:c.2484C>G	XP_016859061.1:p.Ser828Arg
XM_017003573.1:c.2484C>G	XP_016859062.1:p.Ser828Arg
XM_017003574.1:c.2484C>G	XP_016859063.1:p.Ser828Arg
NM_015040.4:c.3441C>G MANE Select	NP_055855.2:p.Ser1147Arg