Linked Data
ClinVar Variation Id:
1392525
ClinVar RCV Id:
RCV001882202
dbSNP Id:
rs147055244
ExAC:
7:92123630 C / T
gnomAD v2:
7-92123630-C-T
gnomAD v3:
7-92494316-C-T
gnomAD v4:
7-92494316-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494316C>T , CM000669.2:g.92494316C>T | GRCh38 |
| NC_000007.13:g.92123630C>T , CM000669.1:g.92123630C>T | GRCh37 |
| NC_000007.12:g.91961566C>T | NCBI36 |
| NG_008341.1:g.39216G>A | |
| NG_008341.2:g.39216G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3007G>A (PEX1) MANE Select | ENSP00000248633.4:p.Val1003Ile | |
| ENST00000248633.8:c.3007G>A (PEX1) | ENSP00000248633.4:p.Val1003Ile | |
| ENST00000428214.5:c.2836G>A (PEX1) | ENSP00000394413.1:p.Val946Ile | |
| ENST00000438045.5:c.2041G>A (PEX1) | ENSP00000410438.1:p.Val681Ile | |
| ENST00000484913.5:n.3046G>A (PEX1) | ||
| ENST00000496420.5:n.2899G>A (PEX1) | ||
| NM_000466.2:c.3007G>A (PEX1) | NP_000457.1:p.Val1003Ile | |
| NM_001282677.1:c.2836G>A (PEX1) | NP_001269606.1:p.Val946Ile | |
| NM_001282678.1:c.2383G>A (PEX1) | NP_001269607.1:p.Val795Ile | |
| XM_005250433.3:c.1258G>A (PEX1) | XP_005250490.1:p.Val420Ile | |
| XR_242246.3:n.3103G>A (PEX1) | ||
| XM_017012319.2:c.1258G>A (PEX1) | XP_016867808.1:p.Val420Ile | |
| XR_001744808.2:n.2034G>A (PEX1) | ||
| XR_001744843.2:n.5285C>T (GATAD1) | ||
| XR_242246.5:n.3054G>A (PEX1) | ||
| XR_927494.3:n.4136C>T (GATAD1) | ||
| XR_927503.3:n.4067C>T (GATAD1) | ||
| NM_000466.3:c.3007G>A (PEX1) MANE Select | NP_000457.1:p.Val1003Ile | |
| NM_001282677.2:c.2836G>A (PEX1) | NP_001269606.1:p.Val946Ile | |
| NM_001282678.2:c.2383G>A (PEX1) | NP_001269607.1:p.Val795Ile |