Canonical Allele Identifier: CA7239015
Gene: ZFYVE26 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67752484G>A , CM000676.2:g.67752484G>A GRCh38
NC_000014.8:g.68219201G>A , CM000676.1:g.68219201G>A GRCh37
NC_000014.7:g.67288954G>A NCBI36
NG_011836.1:g.69106C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347230.9:c.7231C>T MANE Select ENSP00000251119.5:p.Arg2411Cys
ENST00000676512.1:c.7249C>T ENSP00000504552.1:p.Arg2417Cys
ENST00000676620.1:c.7153C>T ENSP00000504587.1:p.Arg2385Cys
ENST00000678386.1:c.7276C>T ENSP00000503677.1:p.Arg2426Cys
ENST00000347230.8:c.7231C>T ENSP00000251119.5:p.Arg2411Cys
ENST00000394455.6:n.2494C>T
ENST00000554523.5:n.7986C>T
ENST00000554557.5:c.*5209C>T ENSP00000450431.1:n.*5209C>T
ENST00000557306.1:c.769C>T ENSP00000452142.1:p.Arg257Cys
NM_015346.3:c.7231C>T NP_056161.2:p.Arg2411Cys
XM_006720093.2:c.7231C>T XP_006720156.1:p.Arg2411Cys
XM_011536606.1:c.5722C>T XP_011534908.1:p.Arg1908Cys
XM_011536607.1:c.4906C>T XP_011534909.1:p.Arg1636Cys
XM_011536608.1:c.4813C>T XP_011534910.1:p.Arg1605Cys
XM_017021124.1:c.7249C>T XP_016876613.1:p.Arg2417Cys
XM_017021125.1:c.7249C>T XP_016876614.1:p.Arg2417Cys
XM_017021126.1:c.5740C>T XP_016876615.1:p.Arg1914Cys
XM_017021127.2:c.4924C>T XP_016876616.1:p.Arg1642Cys
XM_017021128.1:c.4831C>T XP_016876617.1:p.Arg1611Cys
NM_015346.4:c.7231C>T MANE Select NP_056161.2:p.Arg2411Cys