Linked Data
ClinVar Variation Id:
2068710
ClinVar RCV Id:
RCV002975032
dbSNP Id:
rs1259318173
gnomAD v2:
7-92123648-C-G
gnomAD v4:
7-92494334-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494334C>G , CM000669.2:g.92494334C>G | GRCh38 |
| NC_000007.13:g.92123648C>G , CM000669.1:g.92123648C>G | GRCh37 |
| NC_000007.12:g.91961584C>G | NCBI36 |
| NG_008341.1:g.39198G>C | |
| NG_008341.2:g.39198G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2989G>C (PEX1) MANE Select | ENSP00000248633.4:p.Gly997Arg | |
| ENST00000248633.8:c.2989G>C (PEX1) | ENSP00000248633.4:p.Gly997Arg | |
| ENST00000428214.5:c.2818G>C (PEX1) | ENSP00000394413.1:p.Gly940Arg | |
| ENST00000438045.5:c.2023G>C (PEX1) | ENSP00000410438.1:p.Gly675Arg | |
| ENST00000484913.5:n.3028G>C (PEX1) | ||
| ENST00000496420.5:n.2881G>C (PEX1) | ||
| NM_000466.2:c.2989G>C (PEX1) | NP_000457.1:p.Gly997Arg | |
| NM_001282677.1:c.2818G>C (PEX1) | NP_001269606.1:p.Gly940Arg | |
| NM_001282678.1:c.2365G>C (PEX1) | NP_001269607.1:p.Gly789Arg | |
| XM_005250433.3:c.1240G>C (PEX1) | XP_005250490.1:p.Gly414Arg | |
| XR_242246.3:n.3085G>C (PEX1) | ||
| XM_017012319.2:c.1240G>C (PEX1) | XP_016867808.1:p.Gly414Arg | |
| XR_001744808.2:n.2016G>C (PEX1) | ||
| XR_001744843.2:n.5303C>G (GATAD1) | ||
| XR_242246.5:n.3036G>C (PEX1) | ||
| XR_927494.3:n.4154C>G (GATAD1) | ||
| XR_927503.3:n.4085C>G (GATAD1) | ||
| NM_000466.3:c.2989G>C (PEX1) MANE Select | NP_000457.1:p.Gly997Arg | |
| NM_001282677.2:c.2818G>C (PEX1) | NP_001269606.1:p.Gly940Arg | |
| NM_001282678.2:c.2365G>C (PEX1) | NP_001269607.1:p.Gly789Arg |