Canonical Allele Identifier: CA390161129
Community Standard Title: NM_015346.4(ZFYVE26):c.6790C>T (p.Gln2264Ter)
Gene: ZFYVE26 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67755247G>A , CM000676.2:g.67755247G>A GRCh38
NC_000014.8:g.68221964G>A , CM000676.1:g.68221964G>A GRCh37
NC_000014.7:g.67291717G>A NCBI36
NG_011836.1:g.66343C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015346.4:c.6790C>T MANE Select NP_056161.2:p.Gln2264Ter
ENST00000347230.9:c.6790C>T MANE Select ENSP00000251119.5:p.Gln2264Ter
NM_015346.3:c.6790C>T NP_056161.2:p.Gln2264Ter
ENST00000347230.8:c.6790C>T ENSP00000251119.5:p.Gln2264Ter
ENST00000394455.6:n.2053C>T
ENST00000554523.5:n.7545C>T
ENST00000554557.5:c.*4768C>T ENSP00000450431.1:n.*4768C>T
ENST00000554783.1:n.478C>T
ENST00000557306.1:c.328C>T ENSP00000452142.1:p.Gln110Ter
ENST00000676512.1:c.6808C>T ENSP00000504552.1:p.Gln2270Ter
ENST00000676620.1:c.6712C>T ENSP00000504587.1:p.Gln2238Ter
ENST00000678386.1:c.6835C>T ENSP00000503677.1:p.Gln2279Ter
XM_006720093.2:c.6790C>T XP_006720156.1:p.Gln2264Ter
XM_011536606.1:c.5281C>T XP_011534908.1:p.Gln1761Ter
XM_011536607.1:c.4465C>T XP_011534909.1:p.Gln1489Ter
XM_011536608.1:c.4372C>T XP_011534910.1:p.Gln1458Ter
XM_017021124.1:c.6808C>T XP_016876613.1:p.Gln2270Ter
XM_017021125.1:c.6808C>T XP_016876614.1:p.Gln2270Ter
XM_017021126.1:c.5299C>T XP_016876615.1:p.Gln1767Ter
XM_017021127.2:c.4483C>T XP_016876616.1:p.Gln1495Ter
XM_017021128.1:c.4390C>T XP_016876617.1:p.Gln1464Ter