Linked Data
dbSNP Id:
rs756953510
ExAC:
7:92118735 C / A
gnomAD v2:
7-92118735-C-A
gnomAD v4:
7-92489421-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92489421C>A , CM000669.2:g.92489421C>A | GRCh38 |
| NC_000007.13:g.92118735C>A , CM000669.1:g.92118735C>A | GRCh37 |
| NC_000007.12:g.91956671C>A | NCBI36 |
| NG_008341.1:g.44111G>T | |
| NG_008341.2:g.44111G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3639G>T (PEX1) MANE Select | ENSP00000248633.4:p.Glu1213Asp | |
| ENST00000248633.8:c.3639G>T (PEX1) | ENSP00000248633.4:p.Glu1213Asp | |
| ENST00000428214.5:c.3468G>T (PEX1) | ENSP00000394413.1:p.Glu1156Asp | |
| ENST00000438045.5:c.2673G>T (PEX1) | ENSP00000410438.1:p.Glu891Asp | |
| ENST00000469417.1:n.536G>T (PEX1) | ||
| ENST00000477342.1:n.374G>T (PEX1) | ||
| ENST00000484913.5:n.3678G>T (PEX1) | ||
| ENST00000496420.5:n.4689G>T (PEX1) | ||
| NM_000466.2:c.3639G>T (PEX1) | NP_000457.1:p.Glu1213Asp | |
| NM_001282677.1:c.3468G>T (PEX1) | NP_001269606.1:p.Glu1156Asp | |
| NM_001282678.1:c.3015G>T (PEX1) | NP_001269607.1:p.Glu1005Asp | |
| XM_005250433.3:c.1890G>T (PEX1) | XP_005250490.1:p.Glu630Asp | |
| XR_242246.3:n.3730G>T (PEX1) | ||
| XR_927494.1:n.1036-1822C>A (GATAD1) | ||
| XR_927495.1:n.1036-665C>A (GATAD1) | ||
| XR_927496.1:n.1041-1822C>A (GATAD1) | ||
| XR_927497.1:n.1036-665C>A (GATAD1) | ||
| XR_927498.1:n.1124-1822C>A (GATAD1) | ||
| XR_927500.1:n.1033-1822C>A (GATAD1) | ||
| XR_927502.1:n.1033-665C>A (GATAD1) | ||
| XR_927503.1:n.967-1822C>A (GATAD1) | ||
| XM_017012319.2:c.1890G>T (PEX1) | XP_016867808.1:p.Glu630Asp | |
| XR_001744808.2:n.2661G>T (PEX1) | ||
| XR_001744842.2:n.2281-1822C>A (GATAD1) | ||
| XR_001744843.2:n.2212-1822C>A (GATAD1) | ||
| XR_002956472.1:n.2281-665C>A (GATAD1) | ||
| XR_002956473.1:n.2369-1822C>A (GATAD1) | ||
| XR_002956474.1:n.2286-1822C>A (GATAD1) | ||
| XR_242246.5:n.3681G>T (PEX1) | ||
| XR_927494.3:n.1063-1822C>A (GATAD1) | ||
| XR_927500.3:n.1060-1822C>A (GATAD1) | ||
| XR_927503.3:n.994-1822C>A (GATAD1) | ||
| NM_000466.3:c.3639G>T (PEX1) MANE Select | NP_000457.1:p.Glu1213Asp | |
| NM_001282677.2:c.3468G>T (PEX1) | NP_001269606.1:p.Glu1156Asp | |
| NM_001282678.2:c.3015G>T (PEX1) | NP_001269607.1:p.Glu1005Asp |