Linked Data
ClinVar Variation Id:
1122854
ClinVar RCV Id:
RCV001453651
dbSNP Id:
rs1554368757
MyVariant Identifiers:
chr7:g.92123868A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494554A>G , CM000669.2:g.92494554A>G | GRCh38 |
| NC_000007.13:g.92123868A>G , CM000669.1:g.92123868A>G | GRCh37 |
| NC_000007.12:g.91961804A>G | NCBI36 |
| NG_008341.1:g.38978T>C | |
| NG_008341.2:g.38978T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2859T>C (PEX1) MANE Select | ENSP00000248633.4:p.Asn953= | |
| ENST00000248633.8:c.2859T>C (PEX1) | ENSP00000248633.4:p.Asn953= | |
| ENST00000428214.5:c.2688T>C (PEX1) | ENSP00000394413.1:p.Asn896= | |
| ENST00000438045.5:c.1893T>C (PEX1) | ENSP00000410438.1:p.Asn631= | |
| ENST00000484913.5:n.2898T>C (PEX1) | ||
| ENST00000496420.5:n.2751T>C (PEX1) | ||
| NM_000466.2:c.2859T>C (PEX1) | NP_000457.1:p.Asn953= | |
| NM_001282677.1:c.2688T>C (PEX1) | NP_001269606.1:p.Asn896= | |
| NM_001282678.1:c.2235T>C (PEX1) | NP_001269607.1:p.Asn745= | |
| XM_005250433.3:c.1110T>C (PEX1) | XP_005250490.1:p.Asn370= | |
| XR_242246.3:n.2955T>C (PEX1) | ||
| XM_017012319.2:c.1110T>C (PEX1) | XP_016867808.1:p.Asn370= | |
| XR_001744808.2:n.1886T>C (PEX1) | ||
| XR_001744843.2:n.5523A>G (GATAD1) | ||
| XR_242246.5:n.2906T>C (PEX1) | ||
| XR_927494.3:n.4374A>G (GATAD1) | ||
| XR_927503.3:n.4305A>G (GATAD1) | ||
| NM_000466.3:c.2859T>C (PEX1) MANE Select | NP_000457.1:p.Asn953= | |
| NM_001282677.2:c.2688T>C (PEX1) | NP_001269606.1:p.Asn896= | |
| NM_001282678.2:c.2235T>C (PEX1) | NP_001269607.1:p.Asn745= |