Linked Data
ClinVar Variation Id:
360919
dbSNP Id:
rs375062546
ExAC:
7:92123722 A / T
gnomAD v2:
7-92123722-A-T
gnomAD v3:
7-92494408-A-T
gnomAD v4:
7-92494408-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494408A>T , CM000669.2:g.92494408A>T | GRCh38 |
| NC_000007.13:g.92123722A>T , CM000669.1:g.92123722A>T | GRCh37 |
| NC_000007.12:g.91961658A>T | NCBI36 |
| NG_008341.1:g.39124T>A | |
| NG_008341.2:g.39124T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2927-12T>A (PEX1) MANE Select | ENSP00000248633.4:n.2927-12T>A | |
| ENST00000248633.8:c.2927-12T>A (PEX1) | ENSP00000248633.4:n.2927-12T>A | |
| ENST00000428214.5:c.2756-12T>A (PEX1) | ENSP00000394413.1:n.2756-12T>A | |
| ENST00000438045.5:c.1961-12T>A (PEX1) | ENSP00000410438.1:n.1961-12T>A | |
| ENST00000484913.5:n.2966-12T>A (PEX1) | ||
| ENST00000496420.5:n.2819-12T>A (PEX1) | ||
| NM_000466.2:c.2927-12T>A (PEX1) | NP_000457.1:n.2927-12T>A | |
| NM_001282677.1:c.2756-12T>A (PEX1) | NP_001269606.1:n.2756-12T>A | |
| NM_001282678.1:c.2303-12T>A (PEX1) | NP_001269607.1:n.2303-12T>A | |
| XM_005250433.3:c.1178-12T>A (PEX1) | XP_005250490.1:n.1178-12T>A | |
| XR_242246.3:n.3023-12T>A (PEX1) | ||
| XM_017012319.2:c.1178-12T>A (PEX1) | XP_016867808.1:n.1178-12T>A | |
| XR_001744808.2:n.1954-12T>A (PEX1) | ||
| XR_001744843.2:n.5377A>T (GATAD1) | ||
| XR_242246.5:n.2974-12T>A (PEX1) | ||
| XR_927494.3:n.4228A>T (GATAD1) | ||
| XR_927503.3:n.4159A>T (GATAD1) | ||
| NM_000466.3:c.2927-12T>A (PEX1) MANE Select | NP_000457.1:n.2927-12T>A | |
| NM_001282677.2:c.2756-12T>A (PEX1) | NP_001269606.1:n.2756-12T>A | |
| NM_001282678.2:c.2303-12T>A (PEX1) | NP_001269607.1:n.2303-12T>A |