Canonical Allele Identifier: CA390167997
Community Standard Title: NM_015346.4(ZFYVE26):c.5239C>T (p.Gln1747Ter)
Gene: ZFYVE26 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67775097G>A , CM000676.2:g.67775097G>A GRCh38
NC_000014.8:g.68241814G>A , CM000676.1:g.68241814G>A GRCh37
NC_000014.7:g.67311567G>A NCBI36
NG_011836.1:g.46493C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015346.4:c.5239C>T MANE Select NP_056161.2:p.Gln1747Ter
ENST00000347230.9:c.5239C>T MANE Select ENSP00000251119.5:p.Gln1747Ter
NM_015346.3:c.5239C>T NP_056161.2:p.Gln1747Ter
ENST00000347230.8:c.5239C>T ENSP00000251119.5:p.Gln1747Ter
ENST00000554523.5:n.5376C>T
ENST00000554557.5:c.*3217C>T ENSP00000450431.1:n.*3217C>T
ENST00000555452.1:c.5239C>T ENSP00000450603.1:p.Gln1747Ter
ENST00000676512.1:c.5257C>T ENSP00000504552.1:p.Gln1753Ter
ENST00000676620.1:c.5161C>T ENSP00000504587.1:p.Gln1721Ter
ENST00000678386.1:c.5284C>T ENSP00000503677.1:p.Gln1762Ter
XM_006720093.2:c.5239C>T XP_006720156.1:p.Gln1747Ter
XM_011536606.1:c.3730C>T XP_011534908.1:p.Gln1244Ter
XM_011536607.1:c.2914C>T XP_011534909.1:p.Gln972Ter
XM_011536608.1:c.2821C>T XP_011534910.1:p.Gln941Ter
XM_017021124.1:c.5257C>T XP_016876613.1:p.Gln1753Ter
XM_017021125.1:c.5257C>T XP_016876614.1:p.Gln1753Ter
XM_017021126.1:c.3748C>T XP_016876615.1:p.Gln1250Ter
XM_017021127.2:c.2932C>T XP_016876616.1:p.Gln978Ter
XM_017021128.1:c.2839C>T XP_016876617.1:p.Gln947Ter