Canonical Allele Identifier: CA367527699

Linked Data

ClinVar Variation Id: 488382
ClinVar RCV Id: RCV000578194
dbSNP Id: rs1554411234

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50463322C>A , CM000669.2:g.50463322C>A GRCh38
NC_000007.13:g.50531020C>A , CM000669.1:g.50531020C>A GRCh37
NC_000007.12:g.50498514C>A NCBI36
NG_008742.1:g.107135G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.1352G>T (DDC) MANE Select ENSP00000403644.2:p.Cys451Phe
ENST00000357936.9:c.1352G>T (DDC) ENSP00000350616.5:p.Cys451Phe
ENST00000426377.5:c.1118G>T (DDC) ENSP00000395069.1:p.Cys373Phe
ENST00000430300.5:c.994G>T (DDC)
ENST00000431062.5:c.1073G>T (DDC) ENSP00000399184.1:p.Cys358Phe
ENST00000444124.6:c.1352G>T (DDC) ENSP00000403644.2:p.Cys451Phe
ENST00000444733.5:c.*453G>T (DDC) ENSP00000393724.1:n.*453G>T
ENST00000494914.1:n.508G>T (DDC)
ENST00000613602.3:c.-10-16025G>T (FIGNL1) ENSP00000481751.1:n.-10-16025G>T
ENST00000615193.4:c.1073G>T (DDC) ENSP00000484104.1:p.Cys358Phe
ENST00000617822.4:c.1208G>T (DDC) ENSP00000478385.1:p.Cys403Phe
ENST00000622873.4:c.1238G>T (DDC) ENSP00000479110.1:p.Cys413Phe
NM_000790.3:c.1352G>T (DDC) NP_000781.1:p.Cys451Phe
NM_001082971.1:c.1352G>T (DDC) NP_001076440.1:p.Cys451Phe
NM_001242886.1:c.1238G>T (DDC) NP_001229815.1:p.Cys413Phe
NM_001242887.1:c.1208G>T (DDC) NP_001229816.1:p.Cys403Phe
NM_001242888.1:c.1118G>T (DDC) NP_001229817.1:p.Cys373Phe
NM_001242889.1:c.1073G>T (DDC) NP_001229818.1:p.Cys358Phe
XM_005271745.3:c.1238G>T (DDC) XP_005271802.1:p.Cys413Phe
XM_011515161.1:c.1001G>T (DDC) XP_011513463.1:p.Cys334Phe
XM_005271745.4:c.1238G>T (DDC) XP_005271802.1:p.Cys413Phe
XM_011515161.2:c.1295G>T (DDC) XP_011513463.2:p.Cys432Phe
NM_001082971.2:c.1352G>T (DDC) MANE Select NP_001076440.2:p.Cys451Phe
NM_000790.4:c.1352G>T (DDC) NP_000781.2:p.Cys451Phe
NM_001242888.2:c.1118G>T (DDC) NP_001229817.2:p.Cys373Phe
NM_001242886.2:c.1238G>T (DDC) NP_001229815.2:p.Cys413Phe
NM_001242887.2:c.1208G>T (DDC) NP_001229816.2:p.Cys403Phe
NM_001242889.2:c.1073G>T (DDC) NP_001229818.2:p.Cys358Phe