Linked Data
ClinVar Variation Id:
1132884
ClinVar RCV Id:
RCV001467294
dbSNP Id:
rs774719262
gnomAD v4:
7-92494551-T-C
MyVariant Identifiers:
chr7:g.92123865T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494551T>C , CM000669.2:g.92494551T>C | GRCh38 |
| NC_000007.13:g.92123865T>C , CM000669.1:g.92123865T>C | GRCh37 |
| NC_000007.12:g.91961801T>C | NCBI36 |
| NG_008341.1:g.38981A>G | |
| NG_008341.2:g.38981A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2862A>G (PEX1) MANE Select | ENSP00000248633.4:p.Thr954= | |
| ENST00000248633.8:c.2862A>G (PEX1) | ENSP00000248633.4:p.Thr954= | |
| ENST00000428214.5:c.2691A>G (PEX1) | ENSP00000394413.1:p.Thr897= | |
| ENST00000438045.5:c.1896A>G (PEX1) | ENSP00000410438.1:p.Thr632= | |
| ENST00000484913.5:n.2901A>G (PEX1) | ||
| ENST00000496420.5:n.2754A>G (PEX1) | ||
| NM_000466.2:c.2862A>G (PEX1) | NP_000457.1:p.Thr954= | |
| NM_001282677.1:c.2691A>G (PEX1) | NP_001269606.1:p.Thr897= | |
| NM_001282678.1:c.2238A>G (PEX1) | NP_001269607.1:p.Thr746= | |
| XM_005250433.3:c.1113A>G (PEX1) | XP_005250490.1:p.Thr371= | |
| XR_242246.3:n.2958A>G (PEX1) | ||
| XM_017012319.2:c.1113A>G (PEX1) | XP_016867808.1:p.Thr371= | |
| XR_001744808.2:n.1889A>G (PEX1) | ||
| XR_001744843.2:n.5520T>C (GATAD1) | ||
| XR_242246.5:n.2909A>G (PEX1) | ||
| XR_927494.3:n.4371T>C (GATAD1) | ||
| XR_927503.3:n.4302T>C (GATAD1) | ||
| NM_000466.3:c.2862A>G (PEX1) MANE Select | NP_000457.1:p.Thr954= | |
| NM_001282677.2:c.2691A>G (PEX1) | NP_001269606.1:p.Thr897= | |
| NM_001282678.2:c.2238A>G (PEX1) | NP_001269607.1:p.Thr746= |