Linked Data
dbSNP Id:
rs753461425
ExAC:
7:92118734 C / G
gnomAD v2:
7-92118734-C-G
gnomAD v4:
7-92489420-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92489420C>G , CM000669.2:g.92489420C>G | GRCh38 |
| NC_000007.13:g.92118734C>G , CM000669.1:g.92118734C>G | GRCh37 |
| NC_000007.12:g.91956670C>G | NCBI36 |
| NG_008341.1:g.44112G>C | |
| NG_008341.2:g.44112G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3640G>C (PEX1) MANE Select | ENSP00000248633.4:p.Asp1214His | |
| ENST00000248633.8:c.3640G>C (PEX1) | ENSP00000248633.4:p.Asp1214His | |
| ENST00000428214.5:c.3469G>C (PEX1) | ENSP00000394413.1:p.Asp1157His | |
| ENST00000438045.5:c.2674G>C (PEX1) | ENSP00000410438.1:p.Asp892His | |
| ENST00000469417.1:n.537G>C (PEX1) | ||
| ENST00000477342.1:n.375G>C (PEX1) | ||
| ENST00000484913.5:n.3679G>C (PEX1) | ||
| ENST00000496420.5:n.4690G>C (PEX1) | ||
| NM_000466.2:c.3640G>C (PEX1) | NP_000457.1:p.Asp1214His | |
| NM_001282677.1:c.3469G>C (PEX1) | NP_001269606.1:p.Asp1157His | |
| NM_001282678.1:c.3016G>C (PEX1) | NP_001269607.1:p.Asp1006His | |
| XM_005250433.3:c.1891G>C (PEX1) | XP_005250490.1:p.Asp631His | |
| XR_242246.3:n.3731G>C (PEX1) | ||
| XR_927494.1:n.1036-1823C>G (GATAD1) | ||
| XR_927495.1:n.1036-666C>G (GATAD1) | ||
| XR_927496.1:n.1041-1823C>G (GATAD1) | ||
| XR_927497.1:n.1036-666C>G (GATAD1) | ||
| XR_927498.1:n.1124-1823C>G (GATAD1) | ||
| XR_927500.1:n.1033-1823C>G (GATAD1) | ||
| XR_927502.1:n.1033-666C>G (GATAD1) | ||
| XR_927503.1:n.967-1823C>G (GATAD1) | ||
| XM_017012319.2:c.1891G>C (PEX1) | XP_016867808.1:p.Asp631His | |
| XR_001744808.2:n.2662G>C (PEX1) | ||
| XR_001744842.2:n.2281-1823C>G (GATAD1) | ||
| XR_001744843.2:n.2212-1823C>G (GATAD1) | ||
| XR_002956472.1:n.2281-666C>G (GATAD1) | ||
| XR_002956473.1:n.2369-1823C>G (GATAD1) | ||
| XR_002956474.1:n.2286-1823C>G (GATAD1) | ||
| XR_242246.5:n.3682G>C (PEX1) | ||
| XR_927494.3:n.1063-1823C>G (GATAD1) | ||
| XR_927500.3:n.1060-1823C>G (GATAD1) | ||
| XR_927503.3:n.994-1823C>G (GATAD1) | ||
| NM_000466.3:c.3640G>C (PEX1) MANE Select | NP_000457.1:p.Asp1214His | |
| NM_001282677.2:c.3469G>C (PEX1) | NP_001269606.1:p.Asp1157His | |
| NM_001282678.2:c.3016G>C (PEX1) | NP_001269607.1:p.Asp1006His |