Linked Data
ClinVar Variation Id:
2470484
ClinVar RCV Id:
RCV004263927
dbSNP Id:
rs577712251
ExAC:
13:36857822 G / A
gnomAD v2:
13-36857822-G-A
gnomAD v3:
13-36283685-G-A
gnomAD v4:
13-36283685-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36283685G>A , CM000675.2:g.36283685G>A | GRCh38 |
| NC_000013.10:g.36857822G>A , CM000675.1:g.36857822G>A | GRCh37 |
| NC_000013.9:g.35755822G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239859.8:c.181C>T (CCDC169) MANE Select | ENSP00000239859.7:p.Arg61Cys | |
| ENST00000239859.7:c.181C>T (CCDC169) | ENSP00000239859.7:p.Arg61Cys | |
| ENST00000239860.10:c.-79C>T (CCDC169) | ENSP00000239860.6:n.-79C>T | |
| ENST00000379862.6:c.-122C>T (CCDC169) | ENSP00000369191.2:n.-122C>T | |
| ENST00000379864.6:c.-126C>T (CCDC169) | ENSP00000369193.2:n.-126C>T | |
| ENST00000471781.5:n.218C>T (CCDC169) | ||
| ENST00000477250.1:n.294C>T (CCDC169) | ||
| ENST00000479850.6:n.222C>T (CCDC169) | ||
| ENST00000485600.1:n.215C>T (CCDC169) | ||
| ENST00000486683.5:n.214C>T (CCDC169) | ||
| ENST00000491049.6:c.-122C>T (CCDC169) | ENSP00000425252.1:n.-122C>T | |
| ENST00000503173.5:c.181C>T (CCDC169) | ENSP00000426174.1:p.Arg61Cys | |
| ENST00000506800.5:c.-126C>T (CCDC169) | ENSP00000420862.1:n.-126C>T | |
| ENST00000510088.5:c.-126C>T (CCDC169) | ENSP00000427495.1:n.-126C>T | |
| ENST00000511166.1:c.-79C>T (CCDC169-SOHLH2) | ENSP00000421868.1:n.-79C>T | |
| NM_001144981.2:c.181C>T (CCDC169) | NP_001138453.1:p.Arg61Cys | |
| NM_001144982.2:c.-126C>T (CCDC169) | NP_001138454.1:n.-126C>T | |
| NM_001144983.2:c.-122C>T (CCDC169) | NP_001138455.1:n.-122C>T | |
| NM_001144984.2:c.-79C>T (CCDC169) | NP_001138456.1:n.-79C>T | |
| NM_001144985.2:c.-126C>T (CCDC169) | NP_001138457.1:n.-126C>T | |
| NM_001144986.2:c.-122C>T (CCDC169) | NP_001138458.1:n.-122C>T | |
| NM_001198908.1:c.181C>T (CCDC169) | NP_001185837.1:p.Arg61Cys | |
| NM_001198910.1:c.-79C>T (CCDC169-SOHLH2) | NP_001185839.1:n.-79C>T | |
| NM_001144981.3:c.181C>T (CCDC169) MANE Select | NP_001138453.1:p.Arg61Cys | |
| NM_001144982.3:c.-126C>T (CCDC169) | NP_001138454.1:n.-126C>T | |
| NM_001144983.3:c.-122C>T (CCDC169) | NP_001138455.1:n.-122C>T | |
| NM_001144984.3:c.-79C>T (CCDC169) | NP_001138456.1:n.-79C>T | |
| NM_001144985.3:c.-126C>T (CCDC169) | NP_001138457.1:n.-126C>T | |
| NM_001144986.3:c.-122C>T (CCDC169) | NP_001138458.1:n.-122C>T | |
| NM_001198908.2:c.181C>T (CCDC169) | NP_001185837.1:p.Arg61Cys | |
| NM_001198910.2:c.-79C>T (CCDC169-SOHLH2) | NP_001185839.1:n.-79C>T |