Linked Data
ClinVar Variation Id:
2913198
ClinVar RCV Id:
RCV003760532
dbSNP Id:
rs755713173
ExAC:
7:92123790 A / G
gnomAD v2:
7-92123790-A-G
gnomAD v3:
7-92494476-A-G
gnomAD v4:
7-92494476-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494476A>G , CM000669.2:g.92494476A>G | GRCh38 |
| NC_000007.13:g.92123790A>G , CM000669.1:g.92123790A>G | GRCh37 |
| NC_000007.12:g.91961726A>G | NCBI36 |
| NG_008341.1:g.39056T>C | |
| NG_008341.2:g.39056T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2926+11T>C (PEX1) MANE Select | ENSP00000248633.4:n.2926+11T>C | |
| ENST00000248633.8:c.2926+11T>C (PEX1) | ENSP00000248633.4:n.2926+11T>C | |
| ENST00000428214.5:c.2755+11T>C (PEX1) | ENSP00000394413.1:n.2755+11T>C | |
| ENST00000438045.5:c.1960+11T>C (PEX1) | ENSP00000410438.1:n.1960+11T>C | |
| ENST00000484913.5:n.2965+11T>C (PEX1) | ||
| ENST00000496420.5:n.2818+11T>C (PEX1) | ||
| NM_000466.2:c.2926+11T>C (PEX1) | NP_000457.1:n.2926+11T>C | |
| NM_001282677.1:c.2755+11T>C (PEX1) | NP_001269606.1:n.2755+11T>C | |
| NM_001282678.1:c.2302+11T>C (PEX1) | NP_001269607.1:n.2302+11T>C | |
| XM_005250433.3:c.1177+11T>C (PEX1) | XP_005250490.1:n.1177+11T>C | |
| XR_242246.3:n.3022+11T>C (PEX1) | ||
| XM_017012319.2:c.1177+11T>C (PEX1) | XP_016867808.1:n.1177+11T>C | |
| XR_001744808.2:n.1953+11T>C (PEX1) | ||
| XR_001744843.2:n.5445A>G (GATAD1) | ||
| XR_242246.5:n.2973+11T>C (PEX1) | ||
| XR_927494.3:n.4296A>G (GATAD1) | ||
| XR_927503.3:n.4227A>G (GATAD1) | ||
| NM_000466.3:c.2926+11T>C (PEX1) MANE Select | NP_000457.1:n.2926+11T>C | |
| NM_001282677.2:c.2755+11T>C (PEX1) | NP_001269606.1:n.2755+11T>C | |
| NM_001282678.2:c.2302+11T>C (PEX1) | NP_001269607.1:n.2302+11T>C |