Linked Data
ClinVar Variation Id:
198766
dbSNP Id:
rs185594460
ExAC:
7:16298080 G / T
gnomAD v2:
7-16298080-G-T
gnomAD v3:
7-16258455-G-T
gnomAD v4:
7-16258455-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16258455G>T , CM000669.2:g.16258455G>T | GRCh38 |
| NC_000007.13:g.16298080G>T , CM000669.1:g.16298080G>T | GRCh37 |
| NC_000007.12:g.16264605G>T | NCBI36 |
| NG_032690.1:g.167868C>A | |
| NG_032690.2:g.167868C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.1054C>A (CRPPA) MANE Select | ENSP00000385478.2:p.Gln352Lys | |
| ENST00000674759.1:c.751C>A (CRPPA) | ENSP00000502749.1:p.Gln251Lys | |
| ENST00000675257.1:c.646C>A (CRPPA) | ENSP00000501664.1:p.Gln216Lys | |
| ENST00000676325.1:c.751C>A (CRPPA) | ENSP00000502074.1:p.Gln251Lys | |
| ENST00000399310.3:c.904C>A (CRPPA) | ENSP00000382249.3:p.Gln302Lys | |
| ENST00000407010.6:c.1054C>A (CRPPA) | ENSP00000385478.2:p.Gln352Lys | |
| NM_001101417.3:c.904C>A (CRPPA) | NP_001094887.1:p.Gln302Lys | |
| NM_001101426.3:c.1054C>A (CRPPA) | NP_001094896.1:p.Gln352Lys | |
| NR_038946.1:n.224-3444G>T (CRPPA-AS1) | ||
| NR_038947.1:n.241-7772G>T (CRPPA-AS1) | ||
| XM_006715770.2:c.805C>A (CRPPA) | XP_006715833.1:p.Gln269Lys | |
| XM_011515497.1:c.1054C>A (CRPPA) | XP_011513799.1:p.Gln352Lys | |
| XM_011515498.1:c.1054C>A (CRPPA) | XP_011513800.1:p.Gln352Lys | |
| XM_011515499.1:c.1054C>A (CRPPA) | XP_011513801.1:p.Gln352Lys | |
| XM_011515500.1:c.949C>A (CRPPA) | XP_011513802.1:p.Gln317Lys | |
| XM_011515502.1:c.751C>A (CRPPA) | XP_011513804.1:p.Gln251Lys | |
| XM_011515503.1:c.751C>A (CRPPA) | XP_011513805.1:p.Gln251Lys | |
| XM_011515504.1:c.751C>A (CRPPA) | XP_011513806.1:p.Gln251Lys | |
| XM_011515505.1:c.751C>A (CRPPA) | XP_011513807.1:p.Gln251Lys | |
| XM_011515506.1:c.751C>A (CRPPA) | XP_011513808.1:p.Gln251Lys | |
| XM_011515507.1:c.751C>A (CRPPA) | XP_011513809.1:p.Gln251Lys | |
| XM_011515508.1:c.751C>A (CRPPA) | XP_011513810.1:p.Gln251Lys | |
| XM_011515509.1:c.751C>A (CRPPA) | XP_011513811.1:p.Gln251Lys | |
| XM_006715770.3:c.805C>A (CRPPA) | XP_006715833.1:p.Gln269Lys | |
| XM_011515499.2:c.1054C>A (CRPPA) | XP_011513801.1:p.Gln352Lys | |
| XM_011515500.2:c.949C>A (CRPPA) | XP_011513802.1:p.Gln317Lys | |
| XM_011515508.2:c.751C>A (CRPPA) | XP_011513810.1:p.Gln251Lys | |
| XM_011515509.2:c.751C>A (CRPPA) | XP_011513811.1:p.Gln251Lys | |
| XM_017012575.1:c.1054C>A (CRPPA) | XP_016868064.1:p.Gln352Lys | |
| XM_017012577.1:c.418C>A (CRPPA) | XP_016868066.1:p.Gln140Lys | |
| XM_017012578.1:c.418C>A (CRPPA) | XP_016868067.1:p.Gln140Lys | |
| XM_024446909.1:c.751C>A (CRPPA) | XP_024302677.1:p.Gln251Lys | |
| XM_024446910.1:c.751C>A (CRPPA) | XP_024302678.1:p.Gln251Lys | |
| XM_024446911.1:c.646C>A (CRPPA) | XP_024302679.1:p.Gln216Lys | |
| XR_001744866.1:n.1295C>A (CRPPA) | ||
| XR_001744868.1:n.1062C>A (CRPPA) | ||
| NM_001101426.4:c.1054C>A (CRPPA) MANE Select | NP_001094896.1:p.Gln352Lys | |
| NM_001101417.4:c.904C>A (CRPPA) | NP_001094887.1:p.Gln302Lys | |
| NM_001368197.1:c.949C>A (CRPPA) | NP_001355126.1:p.Gln317Lys | |
| NR_160656.1:n.1119C>A (CRPPA) |