Canonical Allele Identifier: CA431117700

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190952T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326228T>G , CM000664.2:g.208326228T>G	GRCh38
NC_000002.11:g.209190952T>G , CM000664.1:g.209190952T>G	GRCh37
NC_000002.10:g.208899197T>G	NCBI36
NG_021188.1:g.64962T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3417T>G MANE Select	ENSP00000264380.4:p.Ala1139=
ENST00000264380.8:c.3417T>G	ENSP00000264380.4:p.Ala1139=
ENST00000452564.1:c.3249T>G	ENSP00000405736.1:p.Ala1083=
NM_015040.3:c.3417T>G	NP_055855.2:p.Ala1139=
XM_011510778.1:c.3453T>G	XP_011509080.1:p.Ala1151=
XM_011510779.1:c.3453T>G	XP_011509081.1:p.Ala1151=
XM_011510780.1:c.3450T>G	XP_011509082.1:p.Ala1150=
XM_011510781.1:c.3435T>G	XP_011509083.1:p.Ala1145=
XM_011510782.1:c.3453T>G	XP_011509084.1:p.Ala1151=
XM_011510783.1:c.3285T>G	XP_011509085.1:p.Ala1095=
XM_011510784.1:c.3282T>G	XP_011509086.1:p.Ala1094=
XM_011510785.1:c.3267T>G	XP_011509087.1:p.Ala1089=
XM_011510786.1:c.3162T>G	XP_011509088.1:p.Ala1054=
XM_011510787.1:c.3159T>G	XP_011509089.1:p.Ala1053=
XM_011510788.1:c.3126T>G	XP_011509090.1:p.Ala1042=
XM_011510789.1:c.2976T>G	XP_011509091.1:p.Ala992=
XM_011510790.1:c.2460T>G	XP_011509092.1:p.Ala820=
XM_011510791.1:c.2460T>G	XP_011509093.1:p.Ala820=
XM_011510792.1:c.3453T>G	XP_011509094.1:p.Ala1151=
XR_922888.1:n.3590T>G
XM_011510778.3:c.3453T>G	XP_011509080.1:p.Ala1151=
XM_011510779.2:c.3453T>G	XP_011509081.1:p.Ala1151=
XM_011510780.2:c.3450T>G	XP_011509082.1:p.Ala1150=
XM_011510781.3:c.3435T>G	XP_011509083.1:p.Ala1145=
XM_011510782.3:c.3453T>G	XP_011509084.1:p.Ala1151=
XM_011510783.3:c.3285T>G	XP_011509085.1:p.Ala1095=
XM_011510784.2:c.3282T>G	XP_011509086.1:p.Ala1094=
XM_011510785.3:c.3267T>G	XP_011509087.1:p.Ala1089=
XM_011510786.3:c.3162T>G	XP_011509088.1:p.Ala1054=
XM_011510789.2:c.2976T>G	XP_011509091.1:p.Ala992=
XM_011510792.3:c.3453T>G	XP_011509094.1:p.Ala1151=
XM_017003568.1:c.3399T>G	XP_016859057.1:p.Ala1133=
XM_017003569.1:c.3231T>G	XP_016859058.1:p.Ala1077=
XM_017003570.1:c.2958T>G	XP_016859059.1:p.Ala986=
XM_017003571.1:c.2808T>G	XP_016859060.1:p.Ala936=
XM_017003572.1:c.2460T>G	XP_016859061.1:p.Ala820=
XM_017003573.1:c.2460T>G	XP_016859062.1:p.Ala820=
XM_017003574.1:c.2460T>G	XP_016859063.1:p.Ala820=
NM_015040.4:c.3417T>G MANE Select	NP_055855.2:p.Ala1139=