Linked Data
ClinVar Variation Id:
1093728
ClinVar RCV Id:
RCV001413975
dbSNP Id:
rs771988779
ExAC:
7:16298646 A / G
gnomAD v2:
7-16298646-A-G
gnomAD v3:
7-16259021-A-G
gnomAD v4:
7-16259021-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16259021A>G , CM000669.2:g.16259021A>G | GRCh38 |
| NC_000007.13:g.16298646A>G , CM000669.1:g.16298646A>G | GRCh37 |
| NC_000007.12:g.16265171A>G | NCBI36 |
| NG_032690.1:g.167302T>C | |
| NG_032690.2:g.167302T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.934-9T>C (CRPPA) MANE Select | ENSP00000385478.2:n.934-9T>C | |
| ENST00000674759.1:c.631-9T>C (CRPPA) | ENSP00000502749.1:n.631-9T>C | |
| ENST00000675257.1:c.526-9T>C (CRPPA) | ENSP00000501664.1:n.526-9T>C | |
| ENST00000676325.1:c.631-9T>C (CRPPA) | ENSP00000502074.1:n.631-9T>C | |
| ENST00000399310.3:c.784-9T>C (CRPPA) | ENSP00000382249.3:n.784-9T>C | |
| ENST00000407010.6:c.934-9T>C (CRPPA) | ENSP00000385478.2:n.934-9T>C | |
| NM_001101417.3:c.784-9T>C (CRPPA) | NP_001094887.1:n.784-9T>C | |
| NM_001101426.3:c.934-9T>C (CRPPA) | NP_001094896.1:n.934-9T>C | |
| NR_038946.1:n.224-2878A>G (CRPPA-AS1) | ||
| NR_038947.1:n.241-7206A>G (CRPPA-AS1) | ||
| XM_006715770.2:c.685-9T>C (CRPPA) | XP_006715833.1:n.685-9T>C | |
| XM_011515497.1:c.934-9T>C (CRPPA) | XP_011513799.1:n.934-9T>C | |
| XM_011515498.1:c.934-9T>C (CRPPA) | XP_011513800.1:n.934-9T>C | |
| XM_011515499.1:c.934-9T>C (CRPPA) | XP_011513801.1:n.934-9T>C | |
| XM_011515500.1:c.829-9T>C (CRPPA) | XP_011513802.1:n.829-9T>C | |
| XM_011515502.1:c.631-9T>C (CRPPA) | XP_011513804.1:n.631-9T>C | |
| XM_011515503.1:c.631-9T>C (CRPPA) | XP_011513805.1:n.631-9T>C | |
| XM_011515504.1:c.631-9T>C (CRPPA) | XP_011513806.1:n.631-9T>C | |
| XM_011515505.1:c.631-9T>C (CRPPA) | XP_011513807.1:n.631-9T>C | |
| XM_011515506.1:c.631-9T>C (CRPPA) | XP_011513808.1:n.631-9T>C | |
| XM_011515507.1:c.631-9T>C (CRPPA) | XP_011513809.1:n.631-9T>C | |
| XM_011515508.1:c.631-9T>C (CRPPA) | XP_011513810.1:n.631-9T>C | |
| XM_011515509.1:c.631-9T>C (CRPPA) | XP_011513811.1:n.631-9T>C | |
| XM_006715770.3:c.685-9T>C (CRPPA) | XP_006715833.1:n.685-9T>C | |
| XM_011515499.2:c.934-9T>C (CRPPA) | XP_011513801.1:n.934-9T>C | |
| XM_011515500.2:c.829-9T>C (CRPPA) | XP_011513802.1:n.829-9T>C | |
| XM_011515508.2:c.631-9T>C (CRPPA) | XP_011513810.1:n.631-9T>C | |
| XM_011515509.2:c.631-9T>C (CRPPA) | XP_011513811.1:n.631-9T>C | |
| XM_017012575.1:c.934-9T>C (CRPPA) | XP_016868064.1:n.934-9T>C | |
| XM_017012577.1:c.298-9T>C (CRPPA) | XP_016868066.1:n.298-9T>C | |
| XM_017012578.1:c.298-9T>C (CRPPA) | XP_016868067.1:n.298-9T>C | |
| XM_024446909.1:c.631-9T>C (CRPPA) | XP_024302677.1:n.631-9T>C | |
| XM_024446910.1:c.631-9T>C (CRPPA) | XP_024302678.1:n.631-9T>C | |
| XM_024446911.1:c.526-9T>C (CRPPA) | XP_024302679.1:n.526-9T>C | |
| XR_001744864.1:n.1039-9T>C (CRPPA) | ||
| XR_001744866.1:n.1175-9T>C (CRPPA) | ||
| XR_001744868.1:n.942-9T>C (CRPPA) | ||
| NM_001101426.4:c.934-9T>C (CRPPA) MANE Select | NP_001094896.1:n.934-9T>C | |
| NM_001101417.4:c.784-9T>C (CRPPA) | NP_001094887.1:n.784-9T>C | |
| NM_001368197.1:c.829-9T>C (CRPPA) | NP_001355126.1:n.829-9T>C | |
| NR_160656.1:n.999-9T>C (CRPPA) |