Linked Data
ClinVar Variation Id:
2844946
ClinVar RCV Id:
RCV003758502
dbSNP Id:
rs1033915282
gnomAD v2:
7-92123714-G-C
gnomAD v3:
7-92494400-G-C
gnomAD v4:
7-92494400-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494400G>C , CM000669.2:g.92494400G>C | GRCh38 |
| NC_000007.13:g.92123714G>C , CM000669.1:g.92123714G>C | GRCh37 |
| NC_000007.12:g.91961650G>C | NCBI36 |
| NG_008341.1:g.39132C>G | |
| NG_008341.2:g.39132C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2927-4C>G (PEX1) MANE Select | ENSP00000248633.4:n.2927-4C>G | |
| ENST00000248633.8:c.2927-4C>G (PEX1) | ENSP00000248633.4:n.2927-4C>G | |
| ENST00000428214.5:c.2756-4C>G (PEX1) | ENSP00000394413.1:n.2756-4C>G | |
| ENST00000438045.5:c.1961-4C>G (PEX1) | ENSP00000410438.1:n.1961-4C>G | |
| ENST00000484913.5:n.2966-4C>G (PEX1) | ||
| ENST00000496420.5:n.2819-4C>G (PEX1) | ||
| NM_000466.2:c.2927-4C>G (PEX1) | NP_000457.1:n.2927-4C>G | |
| NM_001282677.1:c.2756-4C>G (PEX1) | NP_001269606.1:n.2756-4C>G | |
| NM_001282678.1:c.2303-4C>G (PEX1) | NP_001269607.1:n.2303-4C>G | |
| XM_005250433.3:c.1178-4C>G (PEX1) | XP_005250490.1:n.1178-4C>G | |
| XR_242246.3:n.3023-4C>G (PEX1) | ||
| XM_017012319.2:c.1178-4C>G (PEX1) | XP_016867808.1:n.1178-4C>G | |
| XR_001744808.2:n.1954-4C>G (PEX1) | ||
| XR_001744843.2:n.5369G>C (GATAD1) | ||
| XR_242246.5:n.2974-4C>G (PEX1) | ||
| XR_927494.3:n.4220G>C (GATAD1) | ||
| XR_927503.3:n.4151G>C (GATAD1) | ||
| NM_000466.3:c.2927-4C>G (PEX1) MANE Select | NP_000457.1:n.2927-4C>G | |
| NM_001282677.2:c.2756-4C>G (PEX1) | NP_001269606.1:n.2756-4C>G | |
| NM_001282678.2:c.2303-4C>G (PEX1) | NP_001269607.1:n.2303-4C>G |