Linked Data
ClinVar Variation Id:
189002
dbSNP Id:
rs267608180
gnomAD v2:
7-92123799-A-G
gnomAD v4:
7-92494485-A-G
PubMed:
PMID:11389485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494485A>G , CM000669.2:g.92494485A>G | GRCh38 |
| NC_000007.13:g.92123799A>G , CM000669.1:g.92123799A>G | GRCh37 |
| NC_000007.12:g.91961735A>G | NCBI36 |
| NG_008341.1:g.39047T>C | |
| NG_008341.2:g.39047T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2926+2T>C (PEX1) MANE Select | ENSP00000248633.4:n.2926+2T>C | |
| ENST00000248633.8:c.2926+2T>C (PEX1) | ENSP00000248633.4:n.2926+2T>C | |
| ENST00000428214.5:c.2755+2T>C (PEX1) | ENSP00000394413.1:n.2755+2T>C | |
| ENST00000438045.5:c.1960+2T>C (PEX1) | ENSP00000410438.1:n.1960+2T>C | |
| ENST00000484913.5:n.2965+2T>C (PEX1) | ||
| ENST00000496420.5:n.2818+2T>C (PEX1) | ||
| NM_000466.2:c.2926+2T>C (PEX1) | NP_000457.1:n.2926+2T>C | |
| NM_001282677.1:c.2755+2T>C (PEX1) | NP_001269606.1:n.2755+2T>C | |
| NM_001282678.1:c.2302+2T>C (PEX1) | NP_001269607.1:n.2302+2T>C | |
| XM_005250433.3:c.1177+2T>C (PEX1) | XP_005250490.1:n.1177+2T>C | |
| XR_242246.3:n.3022+2T>C (PEX1) | ||
| XM_017012319.2:c.1177+2T>C (PEX1) | XP_016867808.1:n.1177+2T>C | |
| XR_001744808.2:n.1953+2T>C (PEX1) | ||
| XR_001744843.2:n.5454A>G (GATAD1) | ||
| XR_242246.5:n.2973+2T>C (PEX1) | ||
| XR_927494.3:n.4305A>G (GATAD1) | ||
| XR_927503.3:n.4236A>G (GATAD1) | ||
| NM_000466.3:c.2926+2T>C (PEX1) MANE Select | NP_000457.1:n.2926+2T>C | |
| NM_001282677.2:c.2755+2T>C (PEX1) | NP_001269606.1:n.2755+2T>C | |
| NM_001282678.2:c.2302+2T>C (PEX1) | NP_001269607.1:n.2302+2T>C |