Linked Data
ClinVar Variation Id:
223788
ClinVar RCV Id:
RCV000209651
dbSNP Id:
rs199741027
ExAC:
5:138210579 A / C
gnomAD v2:
5-138210579-A-C
gnomAD v3:
5-138874890-A-C
gnomAD v4:
5-138874890-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138874890A>C , CM000667.2:g.138874890A>C | GRCh38 |
| NC_000005.9:g.138210579A>C , CM000667.1:g.138210579A>C | GRCh37 |
| NC_000005.8:g.138238478A>C | NCBI36 |
| NG_047029.1:g.126495A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274711.7:c.4+18T>G (LRRTM2) MANE Select | ENSP00000274711.5:n.4+18T>G | |
| ENST00000302763.12:c.1063-11322A>C (CTNNA1) MANE Select | ENSP00000304669.7:n.1063-11322A>C | |
| ENST00000274711.6:c.4+18T>G (LRRTM2) | ENSP00000274711.5:n.4+18T>G | |
| ENST00000302763.11:c.1063-11322A>C (CTNNA1) | ENSP00000304669.7:n.1063-11322A>C | |
| ENST00000517534.5:n.93-11322A>C (CTNNA1) | ||
| ENST00000518381.5:c.-142+732A>C (CTNNA1) | ENSP00000429738.1:n.-142+732A>C | |
| ENST00000518785.1:c.4+18T>G (LRRTM2) | ENSP00000428398.1:n.4+18T>G | |
| ENST00000518825.5:c.1063-11322A>C (CTNNA1) | ENSP00000427821.1:n.1063-11322A>C | |
| ENST00000520400.5:n.185+4431A>C (CTNNA1) | ||
| ENST00000521094.2:c.4+18T>G (LRRTM2) | ENSP00000430902.1:n.4+18T>G | |
| ENST00000521724.5:c.*753-11322A>C (CTNNA1) | ENSP00000431033.1:n.*753-11322A>C | |
| ENST00000523275.5:c.328-6152A>C (CTNNA1) | ENSP00000429142.1:n.328-6152A>C | |
| ENST00000523537.1:n.434+18T>G (LRRTM2) | ||
| ENST00000627109.2:c.1063-11322A>C (CTNNA1) | ENSP00000486200.1:n.1063-11322A>C | |
| NM_001290307.1:c.1063-11322A>C (CTNNA1) | NP_001277236.1:n.1063-11322A>C | |
| NM_001290309.1:c.754-11322A>C (CTNNA1) | NP_001277238.1:n.754-11322A>C | |
| NM_001290310.1:c.694-11322A>C (CTNNA1) | NP_001277239.1:n.694-11322A>C | |
| NM_001903.3:c.1063-11322A>C (CTNNA1) | NP_001894.2:n.1063-11322A>C | |
| NM_015564.2:c.4+18T>G (LRRTM2) | NP_056379.1:n.4+18T>G | |
| XM_006714536.2:c.1063-11322A>C (CTNNA1) | XP_006714599.1:n.1063-11322A>C | |
| XM_011543172.1:c.1063-11322A>C (CTNNA1) | XP_011541474.1:n.1063-11322A>C | |
| XM_011543305.1:c.30+18T>G (LRRTM2) | XP_011541607.1:n.30+18T>G | |
| NM_001290307.2:c.1063-11322A>C (CTNNA1) | NP_001277236.1:n.1063-11322A>C | |
| NM_001290309.2:c.754-11322A>C (CTNNA1) | NP_001277238.1:n.754-11322A>C | |
| NM_001290310.2:c.694-11322A>C (CTNNA1) | NP_001277239.1:n.694-11322A>C | |
| NM_001323982.1:c.1063-11322A>C (CTNNA1) | NP_001310911.1:n.1063-11322A>C | |
| NM_001323983.1:c.1063-11322A>C (CTNNA1) | NP_001310912.1:n.1063-11322A>C | |
| NM_001323984.1:c.1063-11322A>C (CTNNA1) | NP_001310913.1:n.1063-11322A>C | |
| NM_001323985.1:c.1063-11322A>C (CTNNA1) | NP_001310914.1:n.1063-11322A>C | |
| NM_001323986.1:c.1063-11322A>C (CTNNA1) | NP_001310915.1:n.1063-11322A>C | |
| NM_001903.4:c.1063-11322A>C (CTNNA1) | NP_001894.2:n.1063-11322A>C | |
| NM_001903.5:c.1063-11322A>C (CTNNA1) MANE Select | NP_001894.2:n.1063-11322A>C | |
| NM_015564.3:c.4+18T>G (LRRTM2) MANE Select | NP_056379.1:n.4+18T>G | |
| NM_001290309.3:c.754-11322A>C (CTNNA1) | NP_001277238.1:n.754-11322A>C | |
| NM_001290310.3:c.694-11322A>C (CTNNA1) | NP_001277239.1:n.694-11322A>C | |
| NM_001323982.2:c.1063-11322A>C (CTNNA1) | NP_001310911.1:n.1063-11322A>C | |
| NM_001323984.2:c.1063-11322A>C (CTNNA1) | NP_001310913.1:n.1063-11322A>C | |
| NM_001323985.2:c.1063-11322A>C (CTNNA1) | NP_001310914.1:n.1063-11322A>C | |
| NM_001323986.2:c.1063-11322A>C (CTNNA1) | NP_001310915.1:n.1063-11322A>C | |
| NM_001290307.3:c.1063-11322A>C (CTNNA1) | NP_001277236.1:n.1063-11322A>C |