Canonical Allele Identifier: CA367538355
Community Standard Title: NM_001082971.2(DDC):c.801G>A (p.Trp267Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50499223C>T , CM000669.2:g.50499223C>T GRCh38
NC_000007.13:g.50566921C>T , CM000669.1:g.50566921C>T GRCh37
NC_000007.12:g.50534415C>T NCBI36
NG_008742.1:g.71234G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001082971.2:c.801G>A (DDC) MANE Select NP_001076440.2:p.Trp267Ter
ENST00000444124.7:c.801G>A (DDC) MANE Select ENSP00000403644.2:p.Trp267Ter
NM_000790.3:c.801G>A (DDC) NP_000781.1:p.Trp267Ter
NM_000790.4:c.801G>A (DDC) NP_000781.2:p.Trp267Ter
NM_001082971.1:c.801G>A (DDC) NP_001076440.1:p.Trp267Ter
NM_001242886.1:c.687G>A (DDC) NP_001229815.1:p.Trp229Ter
NM_001242886.2:c.687G>A (DDC) NP_001229815.2:p.Trp229Ter
NM_001242887.1:c.657G>A (DDC) NP_001229816.1:p.Trp219Ter
NM_001242887.2:c.657G>A (DDC) NP_001229816.2:p.Trp219Ter
NM_001242888.1:c.567G>A (DDC) NP_001229817.1:p.Trp189Ter
NM_001242888.2:c.567G>A (DDC) NP_001229817.2:p.Trp189Ter
NM_001242889.1:c.522G>A (DDC) NP_001229818.1:p.Trp174Ter
NM_001242889.2:c.522G>A (DDC) NP_001229818.2:p.Trp174Ter
NM_001242890.1:c.801G>A (DDC) NP_001229819.1:p.Trp267Ter
NM_001242890.2:c.801G>A (DDC) NP_001229819.2:p.Trp267Ter
ENST00000357936.9:c.801G>A (DDC) ENSP00000350616.5:p.Trp267Ter
ENST00000380984.4:c.801G>A (DDC) ENSP00000370371.4:p.Trp267Ter
ENST00000426377.5:c.567G>A (DDC) ENSP00000395069.1:p.Trp189Ter
ENST00000430300.5:c.443G>A (DDC)
ENST00000431062.5:c.522G>A (DDC) ENSP00000399184.1:p.Trp174Ter
ENST00000444124.6:c.801G>A (DDC) ENSP00000403644.2:p.Trp267Ter
ENST00000444733.5:c.668-3806G>A (DDC) ENSP00000393724.1:n.668-3806G>A
ENST00000613602.3:c.-11+43295G>A (FIGNL1) ENSP00000481751.1:n.-11+43295G>A
ENST00000615193.4:c.522G>A (DDC) ENSP00000484104.1:p.Trp174Ter
ENST00000617822.4:c.657G>A (DDC) ENSP00000478385.1:p.Trp219Ter
ENST00000622873.4:c.687G>A (DDC) ENSP00000479110.1:p.Trp229Ter
XM_005271745.3:c.687G>A (DDC) XP_005271802.1:p.Trp229Ter
XM_005271745.4:c.687G>A (DDC) XP_005271802.1:p.Trp229Ter
XM_011515161.1:c.450G>A (DDC) XP_011513463.1:p.Trp150Ter
XM_011515161.2:c.744G>A (DDC) XP_011513463.2:p.Trp248Ter