Linked Data
ClinVar Variation Id:
1672463
ClinVar RCV Id:
RCV002201696
dbSNP Id:
rs61750428
ExAC:
7:92123645 G / T
gnomAD v2:
7-92123645-G-T
gnomAD v3:
7-92494331-G-T
gnomAD v4:
7-92494331-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494331G>T , CM000669.2:g.92494331G>T | GRCh38 |
| NC_000007.13:g.92123645G>T , CM000669.1:g.92123645G>T | GRCh37 |
| NC_000007.12:g.91961581G>T | NCBI36 |
| NG_008341.1:g.39201C>A | |
| NG_008341.2:g.39201C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2992C>A (PEX1) MANE Select | ENSP00000248633.4:p.Arg998= | |
| ENST00000248633.8:c.2992C>A (PEX1) | ENSP00000248633.4:p.Arg998= | |
| ENST00000428214.5:c.2821C>A (PEX1) | ENSP00000394413.1:p.Arg941= | |
| ENST00000438045.5:c.2026C>A (PEX1) | ENSP00000410438.1:p.Arg676= | |
| ENST00000484913.5:n.3031C>A (PEX1) | ||
| ENST00000496420.5:n.2884C>A (PEX1) | ||
| NM_000466.2:c.2992C>A (PEX1) | NP_000457.1:p.Arg998= | |
| NM_001282677.1:c.2821C>A (PEX1) | NP_001269606.1:p.Arg941= | |
| NM_001282678.1:c.2368C>A (PEX1) | NP_001269607.1:p.Arg790= | |
| XM_005250433.3:c.1243C>A (PEX1) | XP_005250490.1:p.Arg415= | |
| XR_242246.3:n.3088C>A (PEX1) | ||
| XM_017012319.2:c.1243C>A (PEX1) | XP_016867808.1:p.Arg415= | |
| XR_001744808.2:n.2019C>A (PEX1) | ||
| XR_001744843.2:n.5300G>T (GATAD1) | ||
| XR_242246.5:n.3039C>A (PEX1) | ||
| XR_927494.3:n.4151G>T (GATAD1) | ||
| XR_927503.3:n.4082G>T (GATAD1) | ||
| NM_000466.3:c.2992C>A (PEX1) MANE Select | NP_000457.1:p.Arg998= | |
| NM_001282677.2:c.2821C>A (PEX1) | NP_001269606.1:p.Arg941= | |
| NM_001282678.2:c.2368C>A (PEX1) | NP_001269607.1:p.Arg790= |