Linked Data
ClinVar Variation Id:
289346
dbSNP Id:
rs373134516
ExAC:
7:16255696 G / A
gnomAD v2:
7-16255696-G-A
gnomAD v3:
7-16216071-G-A
gnomAD v4:
7-16216071-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16216071G>A , CM000669.2:g.16216071G>A | GRCh38 |
| NC_000007.13:g.16255696G>A , CM000669.1:g.16255696G>A | GRCh37 |
| NC_000007.12:g.16222221G>A | NCBI36 |
| NG_032690.1:g.210252C>T | |
| NG_032690.2:g.210252C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.1246C>T (CRPPA) MANE Select | ENSP00000385478.2:p.Pro416Ser | |
| ENST00000675257.1:c.838C>T (CRPPA) | ENSP00000501664.1:p.Pro280Ser | |
| ENST00000676325.1:c.943C>T (CRPPA) | ENSP00000502074.1:p.Pro315Ser | |
| ENST00000399310.3:c.1096C>T (CRPPA) | ENSP00000382249.3:p.Pro366Ser | |
| ENST00000407010.6:c.1246C>T (CRPPA) | ENSP00000385478.2:p.Pro416Ser | |
| NM_001101417.3:c.1096C>T (CRPPA) | NP_001094887.1:p.Pro366Ser | |
| NM_001101426.3:c.1246C>T (CRPPA) | NP_001094896.1:p.Pro416Ser | |
| NR_038946.1:n.118+5468G>A (CRPPA-AS1) | ||
| NR_038947.1:n.118+5468G>A (CRPPA-AS1) | ||
| XM_006715770.2:c.997C>T (CRPPA) | XP_006715833.1:p.Pro333Ser | |
| XM_011515497.1:c.1246C>T (CRPPA) | XP_011513799.1:p.Pro416Ser | |
| XM_011515498.1:c.1246C>T (CRPPA) | XP_011513800.1:p.Pro416Ser | |
| XM_011515500.1:c.1141C>T (CRPPA) | XP_011513802.1:p.Pro381Ser | |
| XM_011515502.1:c.943C>T (CRPPA) | XP_011513804.1:p.Pro315Ser | |
| XM_011515503.1:c.943C>T (CRPPA) | XP_011513805.1:p.Pro315Ser | |
| XM_011515504.1:c.943C>T (CRPPA) | XP_011513806.1:p.Pro315Ser | |
| XM_011515505.1:c.943C>T (CRPPA) | XP_011513807.1:p.Pro315Ser | |
| XM_011515506.1:c.943C>T (CRPPA) | XP_011513808.1:p.Pro315Ser | |
| XM_011515507.1:c.943C>T (CRPPA) | XP_011513809.1:p.Pro315Ser | |
| XM_011515508.1:c.943C>T (CRPPA) | XP_011513810.1:p.Pro315Ser | |
| XM_011515509.1:c.943C>T (CRPPA) | XP_011513811.1:p.Pro315Ser | |
| XM_006715770.3:c.997C>T (CRPPA) | XP_006715833.1:p.Pro333Ser | |
| XM_011515500.2:c.1141C>T (CRPPA) | XP_011513802.1:p.Pro381Ser | |
| XM_011515508.2:c.943C>T (CRPPA) | XP_011513810.1:p.Pro315Ser | |
| XM_011515509.2:c.943C>T (CRPPA) | XP_011513811.1:p.Pro315Ser | |
| XM_017012575.1:c.1246C>T (CRPPA) | XP_016868064.1:p.Pro416Ser | |
| XM_017012577.1:c.610C>T (CRPPA) | XP_016868066.1:p.Pro204Ser | |
| XM_017012578.1:c.610C>T (CRPPA) | XP_016868067.1:p.Pro204Ser | |
| XM_024446909.1:c.943C>T (CRPPA) | XP_024302677.1:p.Pro315Ser | |
| XM_024446910.1:c.943C>T (CRPPA) | XP_024302678.1:p.Pro315Ser | |
| XM_024446911.1:c.838C>T (CRPPA) | XP_024302679.1:p.Pro280Ser | |
| XR_001744868.1:n.1254C>T (CRPPA) | ||
| NM_001101426.4:c.1246C>T (CRPPA) MANE Select | NP_001094896.1:p.Pro416Ser | |
| NM_001101417.4:c.1096C>T (CRPPA) | NP_001094887.1:p.Pro366Ser | |
| NM_001368197.1:c.1141C>T (CRPPA) | NP_001355126.1:p.Pro381Ser | |
| NR_160656.1:n.1311C>T (CRPPA) |