Linked Data
ClinVar Variation Id:
2883595
ClinVar RCV Id:
RCV003626547
dbSNP Id:
rs1848215285
gnomAD v3:
10-70600699-C-T
gnomAD v4:
10-70600699-C-T
MyVariant Identifiers:
chr10:g.72360455C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70600699C>T , CM000672.2:g.70600699C>T | GRCh38 |
| NC_000010.10:g.72360455C>T , CM000672.1:g.72360455C>T | GRCh37 |
| NC_000010.9:g.72030461C>T | NCBI36 |
| NG_009615.1:g.7077G>A , LRG_94:g.7077G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697571.1:c.*17+1615C>T (PALD1) | ENSP00000513342.1:n.*17+1615C>T | |
| ENST00000697572.1:c.2250+36180C>T (PALD1) | ENSP00000513343.1:n.2250+36180C>T | |
| ENST00000697573.1:c.*17+1615C>T (PALD1) | ENSP00000513344.1:n.*17+1615C>T | |
| ENST00000697577.1:n.2919+1615C>T (PALD1) | ||
| ENST00000697578.1:n.2763+1615C>T (PALD1) | ||
| ENST00000441259.2:c.204G>A (PRF1) MANE Select | ENSP00000398568.1:p.Arg68= | |
| ENST00000638674.1:c.204G>A (PRF1) | ENSP00000492048.1:p.Arg68= | |
| ENST00000639390.1:n.97+1946G>A (PRF1) | ||
| ENST00000373209.2:c.204G>A (PRF1) | ENSP00000362305.1:p.Arg68= | |
| ENST00000441259.1:c.204G>A (PRF1) | ENSP00000398568.1:p.Arg68= | |
| NM_001083116.1:c.204G>A , LRG_94t1:c.204G>A (PRF1) | NP_001076585.1:p.Arg68= | |
| NM_005041.4:c.204G>A (PRF1) | NP_005032.2:p.Arg68= | |
| NM_001083116.2:c.204G>A (PRF1) | NP_001076585.1:p.Arg68= | |
| NM_005041.5:c.204G>A (PRF1) | NP_005032.2:p.Arg68= | |
| NM_001083116.3:c.204G>A (PRF1) MANE Select | NP_001076585.1:p.Arg68= | |
| NM_005041.6:c.204G>A (PRF1) | NP_005032.2:p.Arg68= |