Linked Data
ClinVar Variation Id:
1131306
ClinVar RCV Id:
RCV001465142
dbSNP Id:
rs1459743428
gnomAD v2:
7-92119214-A-G
gnomAD v4:
7-92489900-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92489900A>G , CM000669.2:g.92489900A>G | GRCh38 |
| NC_000007.13:g.92119214A>G , CM000669.1:g.92119214A>G | GRCh37 |
| NC_000007.12:g.91957150A>G | NCBI36 |
| NG_008341.1:g.43632T>C | |
| NG_008341.2:g.43632T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3450T>C (PEX1) MANE Select | ENSP00000248633.4:p.Cys1150= | |
| ENST00000248633.8:c.3450T>C (PEX1) | ENSP00000248633.4:p.Cys1150= | |
| ENST00000428214.5:c.3279T>C (PEX1) | ENSP00000394413.1:p.Cys1093= | |
| ENST00000438045.5:c.2484T>C (PEX1) | ENSP00000410438.1:p.Cys828= | |
| ENST00000469417.1:n.347T>C (PEX1) | ||
| ENST00000484913.5:n.3489T>C (PEX1) | ||
| ENST00000496420.5:n.4505T>C (PEX1) | ||
| NM_000466.2:c.3450T>C (PEX1) | NP_000457.1:p.Cys1150= | |
| NM_001282677.1:c.3279T>C (PEX1) | NP_001269606.1:p.Cys1093= | |
| NM_001282678.1:c.2826T>C (PEX1) | NP_001269607.1:p.Cys942= | |
| XM_005250433.3:c.1701T>C (PEX1) | XP_005250490.1:p.Cys567= | |
| XR_242246.3:n.3546T>C (PEX1) | ||
| XR_927494.1:n.1036-1343A>G (GATAD1) | ||
| XR_927495.1:n.1036-186A>G (GATAD1) | ||
| XR_927496.1:n.1041-1343A>G (GATAD1) | ||
| XR_927497.1:n.1036-186A>G (GATAD1) | ||
| XR_927498.1:n.1124-1343A>G (GATAD1) | ||
| XR_927500.1:n.1033-1343A>G (GATAD1) | ||
| XR_927502.1:n.1033-186A>G (GATAD1) | ||
| XR_927503.1:n.967-1343A>G (GATAD1) | ||
| XM_017012319.2:c.1701T>C (PEX1) | XP_016867808.1:p.Cys567= | |
| XR_001744808.2:n.2477T>C (PEX1) | ||
| XR_001744842.2:n.2281-1343A>G (GATAD1) | ||
| XR_001744843.2:n.2212-1343A>G (GATAD1) | ||
| XR_002956472.1:n.2281-186A>G (GATAD1) | ||
| XR_002956473.1:n.2369-1343A>G (GATAD1) | ||
| XR_002956474.1:n.2286-1343A>G (GATAD1) | ||
| XR_242246.5:n.3497T>C (PEX1) | ||
| XR_927494.3:n.1063-1343A>G (GATAD1) | ||
| XR_927500.3:n.1060-1343A>G (GATAD1) | ||
| XR_927503.3:n.994-1343A>G (GATAD1) | ||
| NM_000466.3:c.3450T>C (PEX1) MANE Select | NP_000457.1:p.Cys1150= | |
| NM_001282677.2:c.3279T>C (PEX1) | NP_001269606.1:p.Cys1093= | |
| NM_001282678.2:c.2826T>C (PEX1) | NP_001269607.1:p.Cys942= |