Linked Data
ClinVar Variation Id:
2747575
ClinVar RCV Id:
RCV003593643
MyVariant Identifiers:
chr7:g.92123817T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494503T>A , CM000669.2:g.92494503T>A | GRCh38 |
| NC_000007.13:g.92123817T>A , CM000669.1:g.92123817T>A | GRCh37 |
| NC_000007.12:g.91961753T>A | NCBI36 |
| NG_008341.1:g.39029A>T | |
| NG_008341.2:g.39029A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2910A>T (PEX1) MANE Select | ENSP00000248633.4:p.Gly970= | |
| ENST00000248633.8:c.2910A>T (PEX1) | ENSP00000248633.4:p.Gly970= | |
| ENST00000428214.5:c.2739A>T (PEX1) | ENSP00000394413.1:p.Gly913= | |
| ENST00000438045.5:c.1944A>T (PEX1) | ENSP00000410438.1:p.Gly648= | |
| ENST00000484913.5:n.2949A>T (PEX1) | ||
| ENST00000496420.5:n.2802A>T (PEX1) | ||
| NM_000466.2:c.2910A>T (PEX1) | NP_000457.1:p.Gly970= | |
| NM_001282677.1:c.2739A>T (PEX1) | NP_001269606.1:p.Gly913= | |
| NM_001282678.1:c.2286A>T (PEX1) | NP_001269607.1:p.Gly762= | |
| XM_005250433.3:c.1161A>T (PEX1) | XP_005250490.1:p.Gly387= | |
| XR_242246.3:n.3006A>T (PEX1) | ||
| XM_017012319.2:c.1161A>T (PEX1) | XP_016867808.1:p.Gly387= | |
| XR_001744808.2:n.1937A>T (PEX1) | ||
| XR_001744843.2:n.5472T>A (GATAD1) | ||
| XR_242246.5:n.2957A>T (PEX1) | ||
| XR_927494.3:n.4323T>A (GATAD1) | ||
| XR_927503.3:n.4254T>A (GATAD1) | ||
| NM_000466.3:c.2910A>T (PEX1) MANE Select | NP_000457.1:p.Gly970= | |
| NM_001282677.2:c.2739A>T (PEX1) | NP_001269606.1:p.Gly913= | |
| NM_001282678.2:c.2286A>T (PEX1) | NP_001269607.1:p.Gly762= |