Canonical Allele Identifier: CA367538192
Community Standard Title: NM_001082971.2(DDC):c.876+1G>T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50499147C>A , CM000669.2:g.50499147C>A GRCh38
NC_000007.13:g.50566845C>A , CM000669.1:g.50566845C>A GRCh37
NC_000007.12:g.50534339C>A NCBI36
NG_008742.1:g.71310G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001082971.2:c.876+1G>T (DDC) MANE Select NP_001076440.2:n.876+1G>T
ENST00000444124.7:c.876+1G>T (DDC) MANE Select ENSP00000403644.2:n.876+1G>T
NM_000790.3:c.876+1G>T (DDC) NP_000781.1:n.876+1G>T
NM_000790.4:c.876+1G>T (DDC) NP_000781.2:n.876+1G>T
NM_001082971.1:c.876+1G>T (DDC) NP_001076440.1:n.876+1G>T
NM_001242886.1:c.762+1G>T (DDC) NP_001229815.1:n.762+1G>T
NM_001242886.2:c.762+1G>T (DDC) NP_001229815.2:n.762+1G>T
NM_001242887.1:c.732+1G>T (DDC) NP_001229816.1:n.732+1G>T
NM_001242887.2:c.732+1G>T (DDC) NP_001229816.2:n.732+1G>T
NM_001242888.1:c.642+1G>T (DDC) NP_001229817.1:n.642+1G>T
NM_001242888.2:c.642+1G>T (DDC) NP_001229817.2:n.642+1G>T
NM_001242889.1:c.597+1G>T (DDC) NP_001229818.1:n.597+1G>T
NM_001242889.2:c.597+1G>T (DDC) NP_001229818.2:n.597+1G>T
NM_001242890.1:c.876+1G>T (DDC) NP_001229819.1:n.876+1G>T
NM_001242890.2:c.876+1G>T (DDC) NP_001229819.2:n.876+1G>T
ENST00000357936.9:c.876+1G>T (DDC) ENSP00000350616.5:n.876+1G>T
ENST00000380984.4:c.876+1G>T (DDC) ENSP00000370371.4:n.876+1G>T
ENST00000426377.5:c.642+1G>T (DDC) ENSP00000395069.1:n.642+1G>T
ENST00000430300.5:c.518+1G>T (DDC)
ENST00000431062.5:c.597+1G>T (DDC) ENSP00000399184.1:n.597+1G>T
ENST00000444124.6:c.876+1G>T (DDC) ENSP00000403644.2:n.876+1G>T
ENST00000444733.5:c.668-3730G>T (DDC) ENSP00000393724.1:n.668-3730G>T
ENST00000613602.3:c.-11+43371G>T (FIGNL1) ENSP00000481751.1:n.-11+43371G>T
ENST00000615193.4:c.597+1G>T (DDC) ENSP00000484104.1:n.597+1G>T
ENST00000617822.4:c.732+1G>T (DDC) ENSP00000478385.1:n.732+1G>T
ENST00000622873.4:c.762+1G>T (DDC) ENSP00000479110.1:n.762+1G>T
XM_005271745.3:c.762+1G>T (DDC) XP_005271802.1:n.762+1G>T
XM_005271745.4:c.762+1G>T (DDC) XP_005271802.1:n.762+1G>T
XM_011515161.1:c.525+1G>T (DDC) XP_011513463.1:n.525+1G>T
XM_011515161.2:c.819+1G>T (DDC) XP_011513463.2:n.819+1G>T