Linked Data
ClinVar Variation Id:
161536
ClinVar RCV Id:
RCV000149071
dbSNP Id:
rs193920978
gnomAD v2:
22-24717412-G-T
gnomAD v4:
22-24321444-G-T
COSMIC:
COSM1178788
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24321444G>T , CM000684.2:g.24321444G>T | GRCh38 |
| NC_000022.10:g.24717412G>T , CM000684.1:g.24717412G>T | GRCh37 |
| NC_000022.9:g.23047412G>T | NCBI36 |
| NG_031915.2:g.55623G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314328.14:c.464G>T (SPECC1L) MANE Select | ENSP00000325785.8:p.Arg155Leu | |
| ENST00000651059.1:c.521G>T (SPECC1L) | ENSP00000499052.1:p.Arg174Leu | |
| ENST00000314328.13:c.464G>T (SPECC1L) | ENSP00000325785.8:p.Arg155Leu | |
| ENST00000358654.2:c.464G>T (SPECC1L-ADORA2A) | ENSP00000351480.2:p.Arg155Leu | |
| ENST00000416735.5:n.481+121G>T (SPECC1L) | ||
| ENST00000421374.5:c.464G>T (SPECC1L) | ENSP00000405671.1:p.Arg155Leu | |
| ENST00000437398.5:c.464G>T (SPECC1L) | ENSP00000393363.1:p.Arg155Leu | |
| ENST00000440893.1:c.281G>T (SPECC1L) | ENSP00000414354.1:p.Arg94Leu | |
| ENST00000541492.1:c.464G>T (SPECC1L) | ENSP00000439633.1:p.Arg155Leu | |
| NM_001145468.3:c.464G>T (SPECC1L) | NP_001138940.3:p.Arg155Leu | |
| NM_001254732.2:c.464G>T (SPECC1L) | NP_001241661.2:p.Arg155Leu | |
| NM_015330.4:c.464G>T (SPECC1L) | NP_056145.4:p.Arg155Leu | |
| NR_103546.1:n.772G>T (SPECC1L-ADORA2A) | ||
| NM_015330.5:c.464G>T (SPECC1L) | NP_056145.4:p.Arg155Leu | |
| NM_001145468.4:c.464G>T (SPECC1L) | NP_001138940.4:p.Arg155Leu | |
| NM_001254732.3:c.464G>T (SPECC1L) | NP_001241661.3:p.Arg155Leu | |
| NM_015330.6:c.464G>T (SPECC1L) MANE Select | NP_056145.5:p.Arg155Leu |