Linked Data
ClinVar Variation Id:
280002
dbSNP Id:
rs886041314
gnomAD v2:
1-2343941-T-C
gnomAD v3:
1-2412502-T-C
gnomAD v4:
1-2412502-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2412502T>C , CM000663.2:g.2412502T>C | GRCh38 |
| NC_000001.10:g.2343941T>C , CM000663.1:g.2343941T>C | GRCh37 |
| NC_000001.9:g.2333801T>C | NCBI36 |
| NG_008342.1:g.5070A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.1A>G (PEX10) | ENSP00000288774.3:p.Met1Val | |
| ENST00000447513.7:c.1A>G (PEX10) MANE Select | ENSP00000407922.2:p.Met1Val | |
| ENST00000288774.7:c.1A>G (PEX10) | ENSP00000288774.3:p.Met1Val | |
| ENST00000447513.6:c.1A>G (PEX10) | ENSP00000407922.2:p.Met1Val | |
| ENST00000507596.5:c.1A>G (PEX10) | ENSP00000424291.1:p.Met1Val | |
| ENST00000508384.5:c.-321+1095A>G (PEX10) | ENSP00000464289.1:n.-321+1095A>G | |
| ENST00000510434.1:c.1A>G (PEX10) | ENSP00000423051.1:p.Met1Val | |
| ENST00000514502.1:c.1A>G (PEX10) | ENSP00000425924.1:p.Met1Val | |
| NM_002617.3:c.1A>G (PEX10) | NP_002608.1:p.Met1Val | |
| NM_153818.1:c.1A>G (PEX10) | NP_722540.1:p.Met1Val | |
| XM_011541573.1:c.1A>G (PEX10) | XP_011539875.1:p.Met1Val | |
| XM_011541575.1:c.-321+1095A>G (PEX10) | XP_011539877.1:n.-321+1095A>G | |
| XM_011541576.1:c.1A>G (PEX10) | XP_011539878.1:p.Met1Val | |
| XR_946666.1:n.121A>G (PEX10) | ||
| XM_011541576.2:c.1A>G (PEX10) | XP_011539878.1:p.Met1Val | |
| XM_017002870.1:c.2T>C (PLCH2) | XP_016858359.1:p.Met1Thr | |
| XM_017002872.1:c.2T>C (PLCH2) | XP_016858361.1:p.Met1Thr | |
| XM_017002873.1:c.2T>C (PLCH2) | XP_016858362.1:p.Met1Thr | |
| XM_017002874.1:c.2T>C (PLCH2) | XP_016858363.1:p.Met1Thr | |
| XM_024451059.1:c.2T>C (PLCH2) | XP_024306827.1:p.Met1Thr | |
| XM_024451062.1:c.2T>C (PLCH2) | XP_024306830.1:p.Met1Thr | |
| XM_024451063.1:c.2T>C (PLCH2) | XP_024306831.1:p.Met1Thr | |
| XM_024451064.1:c.2T>C (PLCH2) | XP_024306832.1:p.Met1Thr | |
| XR_946666.2:n.70A>G (PEX10) | ||
| NM_001374425.1:c.1A>G (PEX10) | NP_001361354.1:p.Met1Val | |
| NM_001374426.1:c.-321+1095A>G (PEX10) | NP_001361355.1:n.-321+1095A>G | |
| NM_001374427.1:c.-321+1095A>G (PEX10) | NP_001361356.1:n.-321+1095A>G | |
| NM_002617.4:c.1A>G (PEX10) MANE Select | NP_002608.1:p.Met1Val | |
| NM_153818.2:c.1A>G (PEX10) | NP_722540.1:p.Met1Val | |
| NR_164636.1:n.231+1095A>G (PEX10) |