Linked Data
ClinVar Variation Id:
31101
ClinVar RCV Id:
RCV000024097
dbSNP Id:
rs387907108
PubMed:
PMID:21703590
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24322224A>C , CM000684.2:g.24322224A>C | GRCh38 |
| NC_000022.10:g.24718192A>C , CM000684.1:g.24718192A>C | GRCh37 |
| NC_000022.9:g.23048192A>C | NCBI36 |
| NG_031915.2:g.56403A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314328.14:c.1244A>C (SPECC1L) MANE Select | ENSP00000325785.8:p.Gln415Pro | |
| ENST00000651059.1:c.1301A>C (SPECC1L) | ENSP00000499052.1:p.Gln434Pro | |
| ENST00000314328.13:c.1244A>C (SPECC1L) | ENSP00000325785.8:p.Gln415Pro | |
| ENST00000358654.2:c.1244A>C (SPECC1L-ADORA2A) | ENSP00000351480.2:p.Gln415Pro | |
| ENST00000416735.5:n.481+901A>C (SPECC1L) | ||
| ENST00000421374.5:c.1244A>C (SPECC1L) | ENSP00000405671.1:p.Gln415Pro | |
| ENST00000437398.5:c.1244A>C (SPECC1L) | ENSP00000393363.1:p.Gln415Pro | |
| ENST00000541492.1:c.1244A>C (SPECC1L) | ENSP00000439633.1:p.Gln415Pro | |
| NM_001145468.3:c.1244A>C (SPECC1L) | NP_001138940.3:p.Gln415Pro | |
| NM_001254732.2:c.1244A>C (SPECC1L) | NP_001241661.2:p.Gln415Pro | |
| NM_015330.4:c.1244A>C (SPECC1L) | NP_056145.4:p.Gln415Pro | |
| NR_103546.1:n.1552A>C (SPECC1L-ADORA2A) | ||
| NM_015330.5:c.1244A>C (SPECC1L) | NP_056145.4:p.Gln415Pro | |
| NM_001145468.4:c.1244A>C (SPECC1L) | NP_001138940.4:p.Gln415Pro | |
| NM_001254732.3:c.1244A>C (SPECC1L) | NP_001241661.3:p.Gln415Pro | |
| NM_015330.6:c.1244A>C (SPECC1L) MANE Select | NP_056145.5:p.Gln415Pro |