Linked Data
ClinVar Variation Id:
1650951
ClinVar RCV Id:
RCV002149309
dbSNP Id:
rs750723164
ExAC:
7:92123676 G / A
gnomAD v2:
7-92123676-G-A
gnomAD v4:
7-92494362-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494362G>A , CM000669.2:g.92494362G>A | GRCh38 |
| NC_000007.13:g.92123676G>A , CM000669.1:g.92123676G>A | GRCh37 |
| NC_000007.12:g.91961612G>A | NCBI36 |
| NG_008341.1:g.39170C>T | |
| NG_008341.2:g.39170C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2961C>T (PEX1) MANE Select | ENSP00000248633.4:p.Asp987= | |
| ENST00000248633.8:c.2961C>T (PEX1) | ENSP00000248633.4:p.Asp987= | |
| ENST00000428214.5:c.2790C>T (PEX1) | ENSP00000394413.1:p.Asp930= | |
| ENST00000438045.5:c.1995C>T (PEX1) | ENSP00000410438.1:p.Asp665= | |
| ENST00000484913.5:n.3000C>T (PEX1) | ||
| ENST00000496420.5:n.2853C>T (PEX1) | ||
| NM_000466.2:c.2961C>T (PEX1) | NP_000457.1:p.Asp987= | |
| NM_001282677.1:c.2790C>T (PEX1) | NP_001269606.1:p.Asp930= | |
| NM_001282678.1:c.2337C>T (PEX1) | NP_001269607.1:p.Asp779= | |
| XM_005250433.3:c.1212C>T (PEX1) | XP_005250490.1:p.Asp404= | |
| XR_242246.3:n.3057C>T (PEX1) | ||
| XM_017012319.2:c.1212C>T (PEX1) | XP_016867808.1:p.Asp404= | |
| XR_001744808.2:n.1988C>T (PEX1) | ||
| XR_001744843.2:n.5331G>A (GATAD1) | ||
| XR_242246.5:n.3008C>T (PEX1) | ||
| XR_927494.3:n.4182G>A (GATAD1) | ||
| XR_927503.3:n.4113G>A (GATAD1) | ||
| NM_000466.3:c.2961C>T (PEX1) MANE Select | NP_000457.1:p.Asp987= | |
| NM_001282677.2:c.2790C>T (PEX1) | NP_001269606.1:p.Asp930= | |
| NM_001282678.2:c.2337C>T (PEX1) | NP_001269607.1:p.Asp779= |