Canonical Allele Identifier: CA350115588

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190993C>G (hg19) ; chr2:g.208326269C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326269C>G , CM000664.2:g.208326269C>G	GRCh38
NC_000002.11:g.209190993C>G , CM000664.1:g.209190993C>G	GRCh37
NC_000002.10:g.208899238C>G	NCBI36
NG_021188.1:g.65003C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3458C>G MANE Select	ENSP00000264380.4:p.Ala1153Gly
ENST00000264380.8:c.3458C>G	ENSP00000264380.4:p.Ala1153Gly
ENST00000452564.1:c.3290C>G	ENSP00000405736.1:p.Ala1097Gly
NM_015040.3:c.3458C>G	NP_055855.2:p.Ala1153Gly
XM_011510778.1:c.3494C>G	XP_011509080.1:p.Ala1165Gly
XM_011510779.1:c.3494C>G	XP_011509081.1:p.Ala1165Gly
XM_011510780.1:c.3491C>G	XP_011509082.1:p.Ala1164Gly
XM_011510781.1:c.3476C>G	XP_011509083.1:p.Ala1159Gly
XM_011510782.1:c.3494C>G	XP_011509084.1:p.Ala1165Gly
XM_011510783.1:c.3326C>G	XP_011509085.1:p.Ala1109Gly
XM_011510784.1:c.3323C>G	XP_011509086.1:p.Ala1108Gly
XM_011510785.1:c.3308C>G	XP_011509087.1:p.Ala1103Gly
XM_011510786.1:c.3203C>G	XP_011509088.1:p.Ala1068Gly
XM_011510787.1:c.3200C>G	XP_011509089.1:p.Ala1067Gly
XM_011510788.1:c.3167C>G	XP_011509090.1:p.Ala1056Gly
XM_011510789.1:c.3017C>G	XP_011509091.1:p.Ala1006Gly
XM_011510790.1:c.2501C>G	XP_011509092.1:p.Ala834Gly
XM_011510791.1:c.2501C>G	XP_011509093.1:p.Ala834Gly
XM_011510792.1:c.3494C>G	XP_011509094.1:p.Ala1165Gly
XR_922888.1:n.3631C>G
XM_011510778.3:c.3494C>G	XP_011509080.1:p.Ala1165Gly
XM_011510779.2:c.3494C>G	XP_011509081.1:p.Ala1165Gly
XM_011510780.2:c.3491C>G	XP_011509082.1:p.Ala1164Gly
XM_011510781.3:c.3476C>G	XP_011509083.1:p.Ala1159Gly
XM_011510782.3:c.3494C>G	XP_011509084.1:p.Ala1165Gly
XM_011510783.3:c.3326C>G	XP_011509085.1:p.Ala1109Gly
XM_011510784.2:c.3323C>G	XP_011509086.1:p.Ala1108Gly
XM_011510785.3:c.3308C>G	XP_011509087.1:p.Ala1103Gly
XM_011510786.3:c.3203C>G	XP_011509088.1:p.Ala1068Gly
XM_011510789.2:c.3017C>G	XP_011509091.1:p.Ala1006Gly
XM_011510792.3:c.3494C>G	XP_011509094.1:p.Ala1165Gly
XM_017003568.1:c.3440C>G	XP_016859057.1:p.Ala1147Gly
XM_017003569.1:c.3272C>G	XP_016859058.1:p.Ala1091Gly
XM_017003570.1:c.2999C>G	XP_016859059.1:p.Ala1000Gly
XM_017003571.1:c.2849C>G	XP_016859060.1:p.Ala950Gly
XM_017003572.1:c.2501C>G	XP_016859061.1:p.Ala834Gly
XM_017003573.1:c.2501C>G	XP_016859062.1:p.Ala834Gly
XM_017003574.1:c.2501C>G	XP_016859063.1:p.Ala834Gly
NM_015040.4:c.3458C>G MANE Select	NP_055855.2:p.Ala1153Gly