Linked Data
ClinVar Variation Id:
284663
dbSNP Id:
rs754130942
ExAC:
7:92122368 C / A
gnomAD v2:
7-92122368-C-A
gnomAD v3:
7-92493054-C-A
gnomAD v4:
7-92493054-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92493054C>A , CM000669.2:g.92493054C>A | GRCh38 |
| NC_000007.13:g.92122368C>A , CM000669.1:g.92122368C>A | GRCh37 |
| NC_000007.12:g.91960304C>A | NCBI36 |
| NG_008341.1:g.40478G>T | |
| NG_008341.2:g.40478G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3106G>T (PEX1) MANE Select | ENSP00000248633.4:p.Ala1036Ser | |
| ENST00000248633.8:c.3106G>T (PEX1) | ENSP00000248633.4:p.Ala1036Ser | |
| ENST00000428214.5:c.2935G>T (PEX1) | ENSP00000394413.1:p.Ala979Ser | |
| ENST00000438045.5:c.2140G>T (PEX1) | ENSP00000410438.1:p.Ala714Ser | |
| ENST00000484913.5:n.3145G>T (PEX1) | ||
| ENST00000496420.5:n.4161G>T (PEX1) | ||
| NM_000466.2:c.3106G>T (PEX1) | NP_000457.1:p.Ala1036Ser | |
| NM_001282677.1:c.2935G>T (PEX1) | NP_001269606.1:p.Ala979Ser | |
| NM_001282678.1:c.2482G>T (PEX1) | NP_001269607.1:p.Ala828Ser | |
| XM_005250433.3:c.1357G>T (PEX1) | XP_005250490.1:p.Ala453Ser | |
| XR_242246.3:n.3202G>T (PEX1) | ||
| XM_017012319.2:c.1357G>T (PEX1) | XP_016867808.1:p.Ala453Ser | |
| XR_001744808.2:n.2133G>T (PEX1) | ||
| XR_001744842.2:n.4092C>A (GATAD1) | ||
| XR_001744843.2:n.4023C>A (GATAD1) | ||
| XR_002956472.1:n.4149C>A (GATAD1) | ||
| XR_002956473.1:n.4180C>A (GATAD1) | ||
| XR_002956474.1:n.4097C>A (GATAD1) | ||
| XR_242246.5:n.3153G>T (PEX1) | ||
| XR_927494.3:n.2874C>A (GATAD1) | ||
| XR_927500.3:n.2871C>A (GATAD1) | ||
| XR_927503.3:n.2805C>A (GATAD1) | ||
| NM_000466.3:c.3106G>T (PEX1) MANE Select | NP_000457.1:p.Ala1036Ser | |
| NM_001282677.2:c.2935G>T (PEX1) | NP_001269606.1:p.Ala979Ser | |
| NM_001282678.2:c.2482G>T (PEX1) | NP_001269607.1:p.Ala828Ser |