Linked Data
ClinVar Variation Id:
1252072
ClinVar RCV Id:
RCV001844386
dbSNP Id:
rs1281995042
gnomAD v4:
7-92489782-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92489782G>A , CM000669.2:g.92489782G>A | GRCh38 |
| NC_000007.13:g.92119096G>A , CM000669.1:g.92119096G>A | GRCh37 |
| NC_000007.12:g.91957032G>A | NCBI36 |
| NG_008341.1:g.43750C>T | |
| NG_008341.2:g.43750C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.3568C>T (PEX1) MANE Select | ENSP00000248633.4:p.Gln1190Ter | |
| ENST00000248633.8:c.3568C>T (PEX1) | ENSP00000248633.4:p.Gln1190Ter | |
| ENST00000428214.5:c.3397C>T (PEX1) | ENSP00000394413.1:p.Gln1133Ter | |
| ENST00000438045.5:c.2602C>T (PEX1) | ENSP00000410438.1:p.Gln868Ter | |
| ENST00000469417.1:n.465C>T (PEX1) | ||
| ENST00000477342.1:n.13C>T (PEX1) | ||
| ENST00000484913.5:n.3607C>T (PEX1) | ||
| ENST00000496420.5:n.4623C>T (PEX1) | ||
| NM_000466.2:c.3568C>T (PEX1) | NP_000457.1:p.Gln1190Ter | |
| NM_001282677.1:c.3397C>T (PEX1) | NP_001269606.1:p.Gln1133Ter | |
| NM_001282678.1:c.2944C>T (PEX1) | NP_001269607.1:p.Gln982Ter | |
| XM_005250433.3:c.1819C>T (PEX1) | XP_005250490.1:p.Gln607Ter | |
| XR_242246.3:n.3664C>T (PEX1) | ||
| XR_927494.1:n.1036-1461G>A (GATAD1) | ||
| XR_927495.1:n.1036-304G>A (GATAD1) | ||
| XR_927496.1:n.1041-1461G>A (GATAD1) | ||
| XR_927497.1:n.1036-304G>A (GATAD1) | ||
| XR_927498.1:n.1124-1461G>A (GATAD1) | ||
| XR_927500.1:n.1033-1461G>A (GATAD1) | ||
| XR_927502.1:n.1033-304G>A (GATAD1) | ||
| XR_927503.1:n.967-1461G>A (GATAD1) | ||
| XM_017012319.2:c.1819C>T (PEX1) | XP_016867808.1:p.Gln607Ter | |
| XR_001744808.2:n.2595C>T (PEX1) | ||
| XR_001744842.2:n.2281-1461G>A (GATAD1) | ||
| XR_001744843.2:n.2212-1461G>A (GATAD1) | ||
| XR_002956472.1:n.2281-304G>A (GATAD1) | ||
| XR_002956473.1:n.2369-1461G>A (GATAD1) | ||
| XR_002956474.1:n.2286-1461G>A (GATAD1) | ||
| XR_242246.5:n.3615C>T (PEX1) | ||
| XR_927494.3:n.1063-1461G>A (GATAD1) | ||
| XR_927500.3:n.1060-1461G>A (GATAD1) | ||
| XR_927503.3:n.994-1461G>A (GATAD1) | ||
| NM_000466.3:c.3568C>T (PEX1) MANE Select | NP_000457.1:p.Gln1190Ter | |
| NM_001282677.2:c.3397C>T (PEX1) | NP_001269606.1:p.Gln1133Ter | |
| NM_001282678.2:c.2944C>T (PEX1) | NP_001269607.1:p.Gln982Ter |