Linked Data
dbSNP Id:
rs1321349607
gnomAD v2:
7-92123620-G-A
gnomAD v3:
7-92494306-G-A
gnomAD v4:
7-92494306-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494306G>A , CM000669.2:g.92494306G>A | GRCh38 |
| NC_000007.13:g.92123620G>A , CM000669.1:g.92123620G>A | GRCh37 |
| NC_000007.12:g.91961556G>A | NCBI36 |
| NG_008341.1:g.39226C>T | |
| NG_008341.2:g.39226C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3017C>T (PEX1) MANE Select | ENSP00000248633.4:p.Pro1006Leu | |
| ENST00000248633.8:c.3017C>T (PEX1) | ENSP00000248633.4:p.Pro1006Leu | |
| ENST00000428214.5:c.2846C>T (PEX1) | ENSP00000394413.1:p.Pro949Leu | |
| ENST00000438045.5:c.2051C>T (PEX1) | ENSP00000410438.1:p.Pro684Leu | |
| ENST00000484913.5:n.3056C>T (PEX1) | ||
| ENST00000496420.5:n.2909C>T (PEX1) | ||
| NM_000466.2:c.3017C>T (PEX1) | NP_000457.1:p.Pro1006Leu | |
| NM_001282677.1:c.2846C>T (PEX1) | NP_001269606.1:p.Pro949Leu | |
| NM_001282678.1:c.2393C>T (PEX1) | NP_001269607.1:p.Pro798Leu | |
| XM_005250433.3:c.1268C>T (PEX1) | XP_005250490.1:p.Pro423Leu | |
| XR_242246.3:n.3113C>T (PEX1) | ||
| XM_017012319.2:c.1268C>T (PEX1) | XP_016867808.1:p.Pro423Leu | |
| XR_001744808.2:n.2044C>T (PEX1) | ||
| XR_001744843.2:n.5275G>A (GATAD1) | ||
| XR_242246.5:n.3064C>T (PEX1) | ||
| XR_927494.3:n.4126G>A (GATAD1) | ||
| XR_927503.3:n.4057G>A (GATAD1) | ||
| NM_000466.3:c.3017C>T (PEX1) MANE Select | NP_000457.1:p.Pro1006Leu | |
| NM_001282677.2:c.2846C>T (PEX1) | NP_001269606.1:p.Pro949Leu | |
| NM_001282678.2:c.2393C>T (PEX1) | NP_001269607.1:p.Pro798Leu |