Linked Data
ClinVar Variation Id:
252486
dbSNP Id:
rs139054881
ExAC:
7:92116813 A / T
gnomAD v2:
7-92116813-A-T
gnomAD v3:
7-92487499-A-T
gnomAD v4:
7-92487499-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92487499A>T , CM000669.2:g.92487499A>T | GRCh38 |
| NC_000007.13:g.92116813A>T , CM000669.1:g.92116813A>T | GRCh37 |
| NC_000007.12:g.91954749A>T | NCBI36 |
| NG_008341.1:g.46033T>A | |
| NG_008341.2:g.46033T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3810T>A (PEX1) MANE Select | ENSP00000248633.4:p.Ser1270Arg | |
| ENST00000248633.8:c.3810T>A (PEX1) | ENSP00000248633.4:p.Ser1270Arg | |
| ENST00000428214.5:c.3639T>A (PEX1) | ENSP00000394413.1:p.Ser1213Arg | |
| ENST00000438045.5:c.2844T>A (PEX1) | ENSP00000410438.1:p.Ser948Arg | |
| ENST00000477342.1:n.545T>A (PEX1) | ||
| ENST00000484913.5:n.3849T>A (PEX1) | ||
| ENST00000496420.5:n.4860T>A (PEX1) | ||
| NM_000466.2:c.3810T>A (PEX1) | NP_000457.1:p.Ser1270Arg | |
| NM_001282677.1:c.3639T>A (PEX1) | NP_001269606.1:p.Ser1213Arg | |
| NM_001282678.1:c.3186T>A (PEX1) | NP_001269607.1:p.Ser1062Arg | |
| XM_005250433.3:c.2061T>A (PEX1) | XP_005250490.1:p.Ser687Arg | |
| XR_242246.3:n.3901T>A (PEX1) | ||
| XR_927494.1:n.1036-3744A>T (GATAD1) | ||
| XR_927495.1:n.1036-2587A>T (GATAD1) | ||
| XR_927496.1:n.1041-3744A>T (GATAD1) | ||
| XR_927497.1:n.1036-2587A>T (GATAD1) | ||
| XR_927498.1:n.1124-3744A>T (GATAD1) | ||
| XR_927500.1:n.1033-3744A>T (GATAD1) | ||
| XR_927502.1:n.1033-2587A>T (GATAD1) | ||
| XR_927503.1:n.967-3744A>T (GATAD1) | ||
| XM_017012319.2:c.2061T>A (PEX1) | XP_016867808.1:p.Ser687Arg | |
| XR_001744808.2:n.2832T>A (PEX1) | ||
| XR_001744842.2:n.2281-3744A>T (GATAD1) | ||
| XR_001744843.2:n.2212-3744A>T (GATAD1) | ||
| XR_002956472.1:n.2281-2587A>T (GATAD1) | ||
| XR_002956473.1:n.2369-3744A>T (GATAD1) | ||
| XR_002956474.1:n.2286-3744A>T (GATAD1) | ||
| XR_242246.5:n.3852T>A (PEX1) | ||
| XR_927494.3:n.1063-3744A>T (GATAD1) | ||
| XR_927500.3:n.1060-3744A>T (GATAD1) | ||
| XR_927503.3:n.994-3744A>T (GATAD1) | ||
| NM_000466.3:c.3810T>A (PEX1) MANE Select | NP_000457.1:p.Ser1270Arg | |
| NM_001282677.2:c.3639T>A (PEX1) | NP_001269606.1:p.Ser1213Arg | |
| NM_001282678.2:c.3186T>A (PEX1) | NP_001269607.1:p.Ser1062Arg |