Canonical Allele Identifier: CA12466928

Linked Data

dbSNP Id: rs2060762
gnomAD v2: 7-50529384-A-G
gnomAD v3: 7-50461686-A-G
gnomAD v4: 7-50461686-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50461686A>G , CM000669.2:g.50461686A>G GRCh38
NC_000007.13:g.50529384A>G , CM000669.1:g.50529384A>G GRCh37
NC_000007.12:g.50496878A>G NCBI36
NG_008742.1:g.108771T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000444124.7:c.*18+1527T>C (DDC) MANE Select ENSP00000403644.2:n.*18+1527T>C
ENST00000357936.9:c.*18+1527T>C (DDC) ENSP00000350616.5:n.*18+1527T>C
ENST00000426377.5:c.*18+1527T>C (DDC) ENSP00000395069.1:n.*18+1527T>C
ENST00000430300.5:c.1103+1527T>C (DDC)
ENST00000431062.5:c.*18+1527T>C (DDC) ENSP00000399184.1:n.*18+1527T>C
ENST00000444124.6:c.*18+1527T>C (DDC) ENSP00000403644.2:n.*18+1527T>C
ENST00000444733.5:c.*562+1527T>C (DDC) ENSP00000393724.1:n.*562+1527T>C
ENST00000494914.1:n.617+1527T>C (DDC)
ENST00000613602.3:c.-10-14389T>C (FIGNL1) ENSP00000481751.1:n.-10-14389T>C
ENST00000615193.4:c.*18+1527T>C (DDC) ENSP00000484104.1:n.*18+1527T>C
ENST00000617822.4:c.*18+1527T>C (DDC) ENSP00000478385.1:n.*18+1527T>C
ENST00000622873.4:c.*18+1527T>C (DDC) ENSP00000479110.1:n.*18+1527T>C
NM_000790.3:c.*18+1527T>C (DDC) NP_000781.1:n.*18+1527T>C
NM_001082971.1:c.*18+1527T>C (DDC) NP_001076440.1:n.*18+1527T>C
NM_001242886.1:c.*18+1527T>C (DDC) NP_001229815.1:n.*18+1527T>C
NM_001242887.1:c.*18+1527T>C (DDC) NP_001229816.1:n.*18+1527T>C
NM_001242888.1:c.*18+1527T>C (DDC) NP_001229817.1:n.*18+1527T>C
NM_001242889.1:c.*18+1527T>C (DDC) NP_001229818.1:n.*18+1527T>C
XM_005271745.3:c.*18+1527T>C (DDC) XP_005271802.1:n.*18+1527T>C
XM_011515161.1:c.*18+1527T>C (DDC) XP_011513463.1:n.*18+1527T>C
XM_005271745.4:c.*18+1527T>C (DDC) XP_005271802.1:n.*18+1527T>C
XM_011515161.2:c.*18+1527T>C (DDC) XP_011513463.2:n.*18+1527T>C
NM_001082971.2:c.*18+1527T>C (DDC) MANE Select NP_001076440.2:n.*18+1527T>C
NM_000790.4:c.*18+1527T>C (DDC) NP_000781.2:n.*18+1527T>C
NM_001242888.2:c.*18+1527T>C (DDC) NP_001229817.2:n.*18+1527T>C
NM_001242886.2:c.*18+1527T>C (DDC) NP_001229815.2:n.*18+1527T>C
NM_001242887.2:c.*18+1527T>C (DDC) NP_001229816.2:n.*18+1527T>C
NM_001242889.2:c.*18+1527T>C (DDC) NP_001229818.2:n.*18+1527T>C