Canonical Allele Identifier: CA350115580

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326265-C-A
• MyVariant Identifiers: chr2:g.209190989C>A (hg19) ; chr2:g.208326265C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326265C>A , CM000664.2:g.208326265C>A	GRCh38
NC_000002.11:g.209190989C>A , CM000664.1:g.209190989C>A	GRCh37
NC_000002.10:g.208899234C>A	NCBI36
NG_021188.1:g.64999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3454C>A MANE Select	ENSP00000264380.4:p.Leu1152Met
ENST00000264380.8:c.3454C>A	ENSP00000264380.4:p.Leu1152Met
ENST00000452564.1:c.3286C>A	ENSP00000405736.1:p.Leu1096Met
NM_015040.3:c.3454C>A	NP_055855.2:p.Leu1152Met
XM_011510778.1:c.3490C>A	XP_011509080.1:p.Leu1164Met
XM_011510779.1:c.3490C>A	XP_011509081.1:p.Leu1164Met
XM_011510780.1:c.3487C>A	XP_011509082.1:p.Leu1163Met
XM_011510781.1:c.3472C>A	XP_011509083.1:p.Leu1158Met
XM_011510782.1:c.3490C>A	XP_011509084.1:p.Leu1164Met
XM_011510783.1:c.3322C>A	XP_011509085.1:p.Leu1108Met
XM_011510784.1:c.3319C>A	XP_011509086.1:p.Leu1107Met
XM_011510785.1:c.3304C>A	XP_011509087.1:p.Leu1102Met
XM_011510786.1:c.3199C>A	XP_011509088.1:p.Leu1067Met
XM_011510787.1:c.3196C>A	XP_011509089.1:p.Leu1066Met
XM_011510788.1:c.3163C>A	XP_011509090.1:p.Leu1055Met
XM_011510789.1:c.3013C>A	XP_011509091.1:p.Leu1005Met
XM_011510790.1:c.2497C>A	XP_011509092.1:p.Leu833Met
XM_011510791.1:c.2497C>A	XP_011509093.1:p.Leu833Met
XM_011510792.1:c.3490C>A	XP_011509094.1:p.Leu1164Met
XR_922888.1:n.3627C>A
XM_011510778.3:c.3490C>A	XP_011509080.1:p.Leu1164Met
XM_011510779.2:c.3490C>A	XP_011509081.1:p.Leu1164Met
XM_011510780.2:c.3487C>A	XP_011509082.1:p.Leu1163Met
XM_011510781.3:c.3472C>A	XP_011509083.1:p.Leu1158Met
XM_011510782.3:c.3490C>A	XP_011509084.1:p.Leu1164Met
XM_011510783.3:c.3322C>A	XP_011509085.1:p.Leu1108Met
XM_011510784.2:c.3319C>A	XP_011509086.1:p.Leu1107Met
XM_011510785.3:c.3304C>A	XP_011509087.1:p.Leu1102Met
XM_011510786.3:c.3199C>A	XP_011509088.1:p.Leu1067Met
XM_011510789.2:c.3013C>A	XP_011509091.1:p.Leu1005Met
XM_011510792.3:c.3490C>A	XP_011509094.1:p.Leu1164Met
XM_017003568.1:c.3436C>A	XP_016859057.1:p.Leu1146Met
XM_017003569.1:c.3268C>A	XP_016859058.1:p.Leu1090Met
XM_017003570.1:c.2995C>A	XP_016859059.1:p.Leu999Met
XM_017003571.1:c.2845C>A	XP_016859060.1:p.Leu949Met
XM_017003572.1:c.2497C>A	XP_016859061.1:p.Leu833Met
XM_017003573.1:c.2497C>A	XP_016859062.1:p.Leu833Met
XM_017003574.1:c.2497C>A	XP_016859063.1:p.Leu833Met
NM_015040.4:c.3454C>A MANE Select	NP_055855.2:p.Leu1152Met