Linked Data
dbSNP Id:
rs1009659460
gnomAD v2:
7-92123668-T-C
gnomAD v3:
7-92494354-T-C
gnomAD v4:
7-92494354-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494354T>C , CM000669.2:g.92494354T>C | GRCh38 |
| NC_000007.13:g.92123668T>C , CM000669.1:g.92123668T>C | GRCh37 |
| NC_000007.12:g.91961604T>C | NCBI36 |
| NG_008341.1:g.39178A>G | |
| NG_008341.2:g.39178A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2969A>G (PEX1) MANE Select | ENSP00000248633.4:p.Asp990Gly | |
| ENST00000248633.8:c.2969A>G (PEX1) | ENSP00000248633.4:p.Asp990Gly | |
| ENST00000428214.5:c.2798A>G (PEX1) | ENSP00000394413.1:p.Asp933Gly | |
| ENST00000438045.5:c.2003A>G (PEX1) | ENSP00000410438.1:p.Asp668Gly | |
| ENST00000484913.5:n.3008A>G (PEX1) | ||
| ENST00000496420.5:n.2861A>G (PEX1) | ||
| NM_000466.2:c.2969A>G (PEX1) | NP_000457.1:p.Asp990Gly | |
| NM_001282677.1:c.2798A>G (PEX1) | NP_001269606.1:p.Asp933Gly | |
| NM_001282678.1:c.2345A>G (PEX1) | NP_001269607.1:p.Asp782Gly | |
| XM_005250433.3:c.1220A>G (PEX1) | XP_005250490.1:p.Asp407Gly | |
| XR_242246.3:n.3065A>G (PEX1) | ||
| XM_017012319.2:c.1220A>G (PEX1) | XP_016867808.1:p.Asp407Gly | |
| XR_001744808.2:n.1996A>G (PEX1) | ||
| XR_001744843.2:n.5323T>C (GATAD1) | ||
| XR_242246.5:n.3016A>G (PEX1) | ||
| XR_927494.3:n.4174T>C (GATAD1) | ||
| XR_927503.3:n.4105T>C (GATAD1) | ||
| NM_000466.3:c.2969A>G (PEX1) MANE Select | NP_000457.1:p.Asp990Gly | |
| NM_001282677.2:c.2798A>G (PEX1) | NP_001269606.1:p.Asp933Gly | |
| NM_001282678.2:c.2345A>G (PEX1) | NP_001269607.1:p.Asp782Gly |