Canonical Allele Identifier: CA7239562
Community Standard Title: NM_015346.4(ZFYVE26):c.5222-12C>G
Gene: ZFYVE26 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67775126G>C , CM000676.2:g.67775126G>C GRCh38
NC_000014.8:g.68241843G>C , CM000676.1:g.68241843G>C GRCh37
NC_000014.7:g.67311596G>C NCBI36
NG_011836.1:g.46464C>G

Transcript Alleles

HGVS Amino-acid Change
NM_015346.4:c.5222-12C>G MANE Select NP_056161.2:n.5222-12C>G
ENST00000347230.9:c.5222-12C>G MANE Select ENSP00000251119.5:n.5222-12C>G
NM_015346.3:c.5222-12C>G NP_056161.2:n.5222-12C>G
ENST00000347230.8:c.5222-12C>G ENSP00000251119.5:n.5222-12C>G
ENST00000554523.5:n.5359-12C>G
ENST00000554557.5:c.*3200-12C>G ENSP00000450431.1:n.*3200-12C>G
ENST00000555452.1:c.5222-12C>G ENSP00000450603.1:n.5222-12C>G
ENST00000676512.1:c.5228C>G ENSP00000504552.1:p.Ser1743Cys
ENST00000676620.1:c.5144-12C>G ENSP00000504587.1:n.5144-12C>G
ENST00000678386.1:c.5267-12C>G ENSP00000503677.1:n.5267-12C>G
XM_006720093.2:c.5222-12C>G XP_006720156.1:n.5222-12C>G
XM_011536606.1:c.3713-12C>G XP_011534908.1:n.3713-12C>G
XM_011536607.1:c.2897-12C>G XP_011534909.1:n.2897-12C>G
XM_011536608.1:c.2804-12C>G XP_011534910.1:n.2804-12C>G
XM_017021124.1:c.5228C>G XP_016876613.1:p.Ser1743Cys
XM_017021125.1:c.5228C>G XP_016876614.1:p.Ser1743Cys
XM_017021126.1:c.3719C>G XP_016876615.1:p.Ser1240Cys
XM_017021127.2:c.2903C>G XP_016876616.1:p.Ser968Cys
XM_017021128.1:c.2810C>G XP_016876617.1:p.Ser937Cys