Linked Data
ClinVar Variation Id:
1097349
ClinVar RCV Id:
RCV001418918
dbSNP Id:
rs560095065
ExAC:
7:92123628 T / C
gnomAD v2:
7-92123628-T-C
gnomAD v3:
7-92494314-T-C
gnomAD v4:
7-92494314-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494314T>C , CM000669.2:g.92494314T>C | GRCh38 |
| NC_000007.13:g.92123628T>C , CM000669.1:g.92123628T>C | GRCh37 |
| NC_000007.12:g.91961564T>C | NCBI36 |
| NG_008341.1:g.39218A>G | |
| NG_008341.2:g.39218A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3009A>G (PEX1) MANE Select | ENSP00000248633.4:p.Val1003= | |
| ENST00000248633.8:c.3009A>G (PEX1) | ENSP00000248633.4:p.Val1003= | |
| ENST00000428214.5:c.2838A>G (PEX1) | ENSP00000394413.1:p.Val946= | |
| ENST00000438045.5:c.2043A>G (PEX1) | ENSP00000410438.1:p.Val681= | |
| ENST00000484913.5:n.3048A>G (PEX1) | ||
| ENST00000496420.5:n.2901A>G (PEX1) | ||
| NM_000466.2:c.3009A>G (PEX1) | NP_000457.1:p.Val1003= | |
| NM_001282677.1:c.2838A>G (PEX1) | NP_001269606.1:p.Val946= | |
| NM_001282678.1:c.2385A>G (PEX1) | NP_001269607.1:p.Val795= | |
| XM_005250433.3:c.1260A>G (PEX1) | XP_005250490.1:p.Val420= | |
| XR_242246.3:n.3105A>G (PEX1) | ||
| XM_017012319.2:c.1260A>G (PEX1) | XP_016867808.1:p.Val420= | |
| XR_001744808.2:n.2036A>G (PEX1) | ||
| XR_001744843.2:n.5283T>C (GATAD1) | ||
| XR_242246.5:n.3056A>G (PEX1) | ||
| XR_927494.3:n.4134T>C (GATAD1) | ||
| XR_927503.3:n.4065T>C (GATAD1) | ||
| NM_000466.3:c.3009A>G (PEX1) MANE Select | NP_000457.1:p.Val1003= | |
| NM_001282677.2:c.2838A>G (PEX1) | NP_001269606.1:p.Val946= | |
| NM_001282678.2:c.2385A>G (PEX1) | NP_001269607.1:p.Val795= |