Canonical Allele Identifier: CA390161441
Community Standard Title: NM_015346.4(ZFYVE26):c.6736C>T (p.Gln2246Ter)
Gene: ZFYVE26 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67755998G>A , CM000676.2:g.67755998G>A GRCh38
NC_000014.8:g.68222715G>A , CM000676.1:g.68222715G>A GRCh37
NC_000014.7:g.67292468G>A NCBI36
NG_011836.1:g.65592C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015346.4:c.6736C>T MANE Select NP_056161.2:p.Gln2246Ter
ENST00000347230.9:c.6736C>T MANE Select ENSP00000251119.5:p.Gln2246Ter
NM_015346.3:c.6736C>T NP_056161.2:p.Gln2246Ter
ENST00000347230.8:c.6736C>T ENSP00000251119.5:p.Gln2246Ter
ENST00000394455.6:n.1999C>T
ENST00000554523.5:n.7491C>T
ENST00000554557.5:c.*4714C>T ENSP00000450431.1:n.*4714C>T
ENST00000554783.1:n.424C>T
ENST00000557306.1:c.274C>T ENSP00000452142.1:p.Gln92Ter
ENST00000676512.1:c.6754C>T ENSP00000504552.1:p.Gln2252Ter
ENST00000676620.1:c.6658C>T ENSP00000504587.1:p.Gln2220Ter
ENST00000678386.1:c.6781C>T ENSP00000503677.1:p.Gln2261Ter
XM_006720093.2:c.6736C>T XP_006720156.1:p.Gln2246Ter
XM_011536606.1:c.5227C>T XP_011534908.1:p.Gln1743Ter
XM_011536607.1:c.4411C>T XP_011534909.1:p.Gln1471Ter
XM_011536608.1:c.4318C>T XP_011534910.1:p.Gln1440Ter
XM_017021124.1:c.6754C>T XP_016876613.1:p.Gln2252Ter
XM_017021125.1:c.6754C>T XP_016876614.1:p.Gln2252Ter
XM_017021126.1:c.5245C>T XP_016876615.1:p.Gln1749Ter
XM_017021127.2:c.4429C>T XP_016876616.1:p.Gln1477Ter
XM_017021128.1:c.4336C>T XP_016876617.1:p.Gln1446Ter