Canonical Allele Identifier: CA431117824

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190994C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326270C>G , CM000664.2:g.208326270C>G	GRCh38
NC_000002.11:g.209190994C>G , CM000664.1:g.209190994C>G	GRCh37
NC_000002.10:g.208899239C>G	NCBI36
NG_021188.1:g.65004C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3459C>G MANE Select	ENSP00000264380.4:p.Ala1153=
ENST00000264380.8:c.3459C>G	ENSP00000264380.4:p.Ala1153=
ENST00000452564.1:c.3291C>G	ENSP00000405736.1:p.Ala1097=
NM_015040.3:c.3459C>G	NP_055855.2:p.Ala1153=
XM_011510778.1:c.3495C>G	XP_011509080.1:p.Ala1165=
XM_011510779.1:c.3495C>G	XP_011509081.1:p.Ala1165=
XM_011510780.1:c.3492C>G	XP_011509082.1:p.Ala1164=
XM_011510781.1:c.3477C>G	XP_011509083.1:p.Ala1159=
XM_011510782.1:c.3495C>G	XP_011509084.1:p.Ala1165=
XM_011510783.1:c.3327C>G	XP_011509085.1:p.Ala1109=
XM_011510784.1:c.3324C>G	XP_011509086.1:p.Ala1108=
XM_011510785.1:c.3309C>G	XP_011509087.1:p.Ala1103=
XM_011510786.1:c.3204C>G	XP_011509088.1:p.Ala1068=
XM_011510787.1:c.3201C>G	XP_011509089.1:p.Ala1067=
XM_011510788.1:c.3168C>G	XP_011509090.1:p.Ala1056=
XM_011510789.1:c.3018C>G	XP_011509091.1:p.Ala1006=
XM_011510790.1:c.2502C>G	XP_011509092.1:p.Ala834=
XM_011510791.1:c.2502C>G	XP_011509093.1:p.Ala834=
XM_011510792.1:c.3495C>G	XP_011509094.1:p.Ala1165=
XR_922888.1:n.3632C>G
XM_011510778.3:c.3495C>G	XP_011509080.1:p.Ala1165=
XM_011510779.2:c.3495C>G	XP_011509081.1:p.Ala1165=
XM_011510780.2:c.3492C>G	XP_011509082.1:p.Ala1164=
XM_011510781.3:c.3477C>G	XP_011509083.1:p.Ala1159=
XM_011510782.3:c.3495C>G	XP_011509084.1:p.Ala1165=
XM_011510783.3:c.3327C>G	XP_011509085.1:p.Ala1109=
XM_011510784.2:c.3324C>G	XP_011509086.1:p.Ala1108=
XM_011510785.3:c.3309C>G	XP_011509087.1:p.Ala1103=
XM_011510786.3:c.3204C>G	XP_011509088.1:p.Ala1068=
XM_011510789.2:c.3018C>G	XP_011509091.1:p.Ala1006=
XM_011510792.3:c.3495C>G	XP_011509094.1:p.Ala1165=
XM_017003568.1:c.3441C>G	XP_016859057.1:p.Ala1147=
XM_017003569.1:c.3273C>G	XP_016859058.1:p.Ala1091=
XM_017003570.1:c.3000C>G	XP_016859059.1:p.Ala1000=
XM_017003571.1:c.2850C>G	XP_016859060.1:p.Ala950=
XM_017003572.1:c.2502C>G	XP_016859061.1:p.Ala834=
XM_017003573.1:c.2502C>G	XP_016859062.1:p.Ala834=
XM_017003574.1:c.2502C>G	XP_016859063.1:p.Ala834=
NM_015040.4:c.3459C>G MANE Select	NP_055855.2:p.Ala1153=