Canonical Allele Identifier: CA350115585

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190992G>C (hg19) ; chr2:g.208326268G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326268G>C , CM000664.2:g.208326268G>C	GRCh38
NC_000002.11:g.209190992G>C , CM000664.1:g.209190992G>C	GRCh37
NC_000002.10:g.208899237G>C	NCBI36
NG_021188.1:g.65002G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3457G>C MANE Select	ENSP00000264380.4:p.Ala1153Pro
ENST00000264380.8:c.3457G>C	ENSP00000264380.4:p.Ala1153Pro
ENST00000452564.1:c.3289G>C	ENSP00000405736.1:p.Ala1097Pro
NM_015040.3:c.3457G>C	NP_055855.2:p.Ala1153Pro
XM_011510778.1:c.3493G>C	XP_011509080.1:p.Ala1165Pro
XM_011510779.1:c.3493G>C	XP_011509081.1:p.Ala1165Pro
XM_011510780.1:c.3490G>C	XP_011509082.1:p.Ala1164Pro
XM_011510781.1:c.3475G>C	XP_011509083.1:p.Ala1159Pro
XM_011510782.1:c.3493G>C	XP_011509084.1:p.Ala1165Pro
XM_011510783.1:c.3325G>C	XP_011509085.1:p.Ala1109Pro
XM_011510784.1:c.3322G>C	XP_011509086.1:p.Ala1108Pro
XM_011510785.1:c.3307G>C	XP_011509087.1:p.Ala1103Pro
XM_011510786.1:c.3202G>C	XP_011509088.1:p.Ala1068Pro
XM_011510787.1:c.3199G>C	XP_011509089.1:p.Ala1067Pro
XM_011510788.1:c.3166G>C	XP_011509090.1:p.Ala1056Pro
XM_011510789.1:c.3016G>C	XP_011509091.1:p.Ala1006Pro
XM_011510790.1:c.2500G>C	XP_011509092.1:p.Ala834Pro
XM_011510791.1:c.2500G>C	XP_011509093.1:p.Ala834Pro
XM_011510792.1:c.3493G>C	XP_011509094.1:p.Ala1165Pro
XR_922888.1:n.3630G>C
XM_011510778.3:c.3493G>C	XP_011509080.1:p.Ala1165Pro
XM_011510779.2:c.3493G>C	XP_011509081.1:p.Ala1165Pro
XM_011510780.2:c.3490G>C	XP_011509082.1:p.Ala1164Pro
XM_011510781.3:c.3475G>C	XP_011509083.1:p.Ala1159Pro
XM_011510782.3:c.3493G>C	XP_011509084.1:p.Ala1165Pro
XM_011510783.3:c.3325G>C	XP_011509085.1:p.Ala1109Pro
XM_011510784.2:c.3322G>C	XP_011509086.1:p.Ala1108Pro
XM_011510785.3:c.3307G>C	XP_011509087.1:p.Ala1103Pro
XM_011510786.3:c.3202G>C	XP_011509088.1:p.Ala1068Pro
XM_011510789.2:c.3016G>C	XP_011509091.1:p.Ala1006Pro
XM_011510792.3:c.3493G>C	XP_011509094.1:p.Ala1165Pro
XM_017003568.1:c.3439G>C	XP_016859057.1:p.Ala1147Pro
XM_017003569.1:c.3271G>C	XP_016859058.1:p.Ala1091Pro
XM_017003570.1:c.2998G>C	XP_016859059.1:p.Ala1000Pro
XM_017003571.1:c.2848G>C	XP_016859060.1:p.Ala950Pro
XM_017003572.1:c.2500G>C	XP_016859061.1:p.Ala834Pro
XM_017003573.1:c.2500G>C	XP_016859062.1:p.Ala834Pro
XM_017003574.1:c.2500G>C	XP_016859063.1:p.Ala834Pro
NM_015040.4:c.3457G>C MANE Select	NP_055855.2:p.Ala1153Pro