Linked Data
ClinVar Variation Id:
910361
ClinVar RCV Id:
RCV001162083
dbSNP Id:
rs1791529840
gnomAD v4:
7-92494328-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494328G>T , CM000669.2:g.92494328G>T | GRCh38 |
| NC_000007.13:g.92123642G>T , CM000669.1:g.92123642G>T | GRCh37 |
| NC_000007.12:g.91961578G>T | NCBI36 |
| NG_008341.1:g.39204C>A | |
| NG_008341.2:g.39204C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2995C>A (PEX1) MANE Select | ENSP00000248633.4:p.Leu999Ile | |
| ENST00000248633.8:c.2995C>A (PEX1) | ENSP00000248633.4:p.Leu999Ile | |
| ENST00000428214.5:c.2824C>A (PEX1) | ENSP00000394413.1:p.Leu942Ile | |
| ENST00000438045.5:c.2029C>A (PEX1) | ENSP00000410438.1:p.Leu677Ile | |
| ENST00000484913.5:n.3034C>A (PEX1) | ||
| ENST00000496420.5:n.2887C>A (PEX1) | ||
| NM_000466.2:c.2995C>A (PEX1) | NP_000457.1:p.Leu999Ile | |
| NM_001282677.1:c.2824C>A (PEX1) | NP_001269606.1:p.Leu942Ile | |
| NM_001282678.1:c.2371C>A (PEX1) | NP_001269607.1:p.Leu791Ile | |
| XM_005250433.3:c.1246C>A (PEX1) | XP_005250490.1:p.Leu416Ile | |
| XR_242246.3:n.3091C>A (PEX1) | ||
| XM_017012319.2:c.1246C>A (PEX1) | XP_016867808.1:p.Leu416Ile | |
| XR_001744808.2:n.2022C>A (PEX1) | ||
| XR_001744843.2:n.5297G>T (GATAD1) | ||
| XR_242246.5:n.3042C>A (PEX1) | ||
| XR_927494.3:n.4148G>T (GATAD1) | ||
| XR_927503.3:n.4079G>T (GATAD1) | ||
| NM_000466.3:c.2995C>A (PEX1) MANE Select | NP_000457.1:p.Leu999Ile | |
| NM_001282677.2:c.2824C>A (PEX1) | NP_001269606.1:p.Leu942Ile | |
| NM_001282678.2:c.2371C>A (PEX1) | NP_001269607.1:p.Leu791Ile |