Canonical Allele Identifier: CA390161639
Community Standard Title: NM_015346.4(ZFYVE26):c.6692T>A (p.Leu2231Ter)
Gene: ZFYVE26 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67756042A>T , CM000676.2:g.67756042A>T GRCh38
NC_000014.8:g.68222759A>T , CM000676.1:g.68222759A>T GRCh37
NC_000014.7:g.67292512A>T NCBI36
NG_011836.1:g.65548T>A

Transcript Alleles

HGVS Amino-acid Change
NM_015346.4:c.6692T>A MANE Select NP_056161.2:p.Leu2231Ter
ENST00000347230.9:c.6692T>A MANE Select ENSP00000251119.5:p.Leu2231Ter
NM_015346.3:c.6692T>A NP_056161.2:p.Leu2231Ter
ENST00000347230.8:c.6692T>A ENSP00000251119.5:p.Leu2231Ter
ENST00000394455.6:n.1955T>A
ENST00000554523.5:n.7447T>A
ENST00000554557.5:c.*4670T>A ENSP00000450431.1:n.*4670T>A
ENST00000554783.1:n.380T>A
ENST00000557306.1:c.230T>A ENSP00000452142.1:p.Leu77Ter
ENST00000676512.1:c.6710T>A ENSP00000504552.1:p.Leu2237Ter
ENST00000676620.1:c.6614T>A ENSP00000504587.1:p.Leu2205Ter
ENST00000678386.1:c.6737T>A ENSP00000503677.1:p.Leu2246Ter
XM_006720093.2:c.6692T>A XP_006720156.1:p.Leu2231Ter
XM_011536606.1:c.5183T>A XP_011534908.1:p.Leu1728Ter
XM_011536607.1:c.4367T>A XP_011534909.1:p.Leu1456Ter
XM_011536608.1:c.4274T>A XP_011534910.1:p.Leu1425Ter
XM_017021124.1:c.6710T>A XP_016876613.1:p.Leu2237Ter
XM_017021125.1:c.6710T>A XP_016876614.1:p.Leu2237Ter
XM_017021126.1:c.5201T>A XP_016876615.1:p.Leu1734Ter
XM_017021127.2:c.4385T>A XP_016876616.1:p.Leu1462Ter
XM_017021128.1:c.4292T>A XP_016876617.1:p.Leu1431Ter