Linked Data
ClinVar Variation Id:
93109
dbSNP Id:
rs111704518
ExAC:
7:92123826 C / T
gnomAD v2:
7-92123826-C-T
gnomAD v3:
7-92494512-C-T
gnomAD v4:
7-92494512-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494512C>T , CM000669.2:g.92494512C>T | GRCh38 |
| NC_000007.13:g.92123826C>T , CM000669.1:g.92123826C>T | GRCh37 |
| NC_000007.12:g.91961762C>T | NCBI36 |
| NG_008341.1:g.39020G>A | |
| NG_008341.2:g.39020G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2901G>A (PEX1) MANE Select | ENSP00000248633.4:p.Gln967= | |
| ENST00000248633.8:c.2901G>A (PEX1) | ENSP00000248633.4:p.Gln967= | |
| ENST00000428214.5:c.2730G>A (PEX1) | ENSP00000394413.1:p.Gln910= | |
| ENST00000438045.5:c.1935G>A (PEX1) | ENSP00000410438.1:p.Gln645= | |
| ENST00000484913.5:n.2940G>A (PEX1) | ||
| ENST00000496420.5:n.2793G>A (PEX1) | ||
| NM_000466.2:c.2901G>A (PEX1) | NP_000457.1:p.Gln967= | |
| NM_001282677.1:c.2730G>A (PEX1) | NP_001269606.1:p.Gln910= | |
| NM_001282678.1:c.2277G>A (PEX1) | NP_001269607.1:p.Gln759= | |
| XM_005250433.3:c.1152G>A (PEX1) | XP_005250490.1:p.Gln384= | |
| XR_242246.3:n.2997G>A (PEX1) | ||
| XM_017012319.2:c.1152G>A (PEX1) | XP_016867808.1:p.Gln384= | |
| XR_001744808.2:n.1928G>A (PEX1) | ||
| XR_001744843.2:n.5481C>T (GATAD1) | ||
| XR_242246.5:n.2948G>A (PEX1) | ||
| XR_927494.3:n.4332C>T (GATAD1) | ||
| XR_927503.3:n.4263C>T (GATAD1) | ||
| NM_000466.3:c.2901G>A (PEX1) MANE Select | NP_000457.1:p.Gln967= | |
| NM_001282677.2:c.2730G>A (PEX1) | NP_001269606.1:p.Gln910= | |
| NM_001282678.2:c.2277G>A (PEX1) | NP_001269607.1:p.Gln759= |