Linked Data
ClinVar Variation Id:
282718
dbSNP Id:
rs182452430
ExAC:
7:92119161 T / C
gnomAD v2:
7-92119161-T-C
gnomAD v3:
7-92489847-T-C
gnomAD v4:
7-92489847-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92489847T>C , CM000669.2:g.92489847T>C | GRCh38 |
| NC_000007.13:g.92119161T>C , CM000669.1:g.92119161T>C | GRCh37 |
| NC_000007.12:g.91957097T>C | NCBI36 |
| NG_008341.1:g.43685A>G | |
| NG_008341.2:g.43685A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3503A>G (PEX1) MANE Select | ENSP00000248633.4:p.Asp1168Gly | |
| ENST00000248633.8:c.3503A>G (PEX1) | ENSP00000248633.4:p.Asp1168Gly | |
| ENST00000428214.5:c.3332A>G (PEX1) | ENSP00000394413.1:p.Asp1111Gly | |
| ENST00000438045.5:c.2537A>G (PEX1) | ENSP00000410438.1:p.Asp846Gly | |
| ENST00000469417.1:n.400A>G (PEX1) | ||
| ENST00000484913.5:n.3542A>G (PEX1) | ||
| ENST00000496420.5:n.4558A>G (PEX1) | ||
| NM_000466.2:c.3503A>G (PEX1) | NP_000457.1:p.Asp1168Gly | |
| NM_001282677.1:c.3332A>G (PEX1) | NP_001269606.1:p.Asp1111Gly | |
| NM_001282678.1:c.2879A>G (PEX1) | NP_001269607.1:p.Asp960Gly | |
| XM_005250433.3:c.1754A>G (PEX1) | XP_005250490.1:p.Asp585Gly | |
| XR_242246.3:n.3599A>G (PEX1) | ||
| XR_927494.1:n.1036-1396T>C (GATAD1) | ||
| XR_927495.1:n.1036-239T>C (GATAD1) | ||
| XR_927496.1:n.1041-1396T>C (GATAD1) | ||
| XR_927497.1:n.1036-239T>C (GATAD1) | ||
| XR_927498.1:n.1124-1396T>C (GATAD1) | ||
| XR_927500.1:n.1033-1396T>C (GATAD1) | ||
| XR_927502.1:n.1033-239T>C (GATAD1) | ||
| XR_927503.1:n.967-1396T>C (GATAD1) | ||
| XM_017012319.2:c.1754A>G (PEX1) | XP_016867808.1:p.Asp585Gly | |
| XR_001744808.2:n.2530A>G (PEX1) | ||
| XR_001744842.2:n.2281-1396T>C (GATAD1) | ||
| XR_001744843.2:n.2212-1396T>C (GATAD1) | ||
| XR_002956472.1:n.2281-239T>C (GATAD1) | ||
| XR_002956473.1:n.2369-1396T>C (GATAD1) | ||
| XR_002956474.1:n.2286-1396T>C (GATAD1) | ||
| XR_242246.5:n.3550A>G (PEX1) | ||
| XR_927494.3:n.1063-1396T>C (GATAD1) | ||
| XR_927500.3:n.1060-1396T>C (GATAD1) | ||
| XR_927503.3:n.994-1396T>C (GATAD1) | ||
| NM_000466.3:c.3503A>G (PEX1) MANE Select | NP_000457.1:p.Asp1168Gly | |
| NM_001282677.2:c.3332A>G (PEX1) | NP_001269606.1:p.Asp1111Gly | |
| NM_001282678.2:c.2879A>G (PEX1) | NP_001269607.1:p.Asp960Gly |