Linked Data
dbSNP Id:
rs771494018
ExAC:
7:92120800 G / A
gnomAD v2:
7-92120800-G-A
gnomAD v3:
7-92491486-G-A
gnomAD v4:
7-92491486-G-A
COSMIC:
COSM2864223
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92491486G>A , CM000669.2:g.92491486G>A | GRCh38 |
| NC_000007.13:g.92120800G>A , CM000669.1:g.92120800G>A | GRCh37 |
| NC_000007.12:g.91958736G>A | NCBI36 |
| NG_008341.1:g.42046C>T | |
| NG_008341.2:g.42046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3224C>T (PEX1) MANE Select | ENSP00000248633.4:p.Ser1075Phe | |
| ENST00000248633.8:c.3224C>T (PEX1) | ENSP00000248633.4:p.Ser1075Phe | |
| ENST00000428214.5:c.3053C>T (PEX1) | ENSP00000394413.1:p.Ser1018Phe | |
| ENST00000438045.5:c.2258C>T (PEX1) | ENSP00000410438.1:p.Ser753Phe | |
| ENST00000484913.5:n.3263C>T (PEX1) | ||
| ENST00000496420.5:n.4279C>T (PEX1) | ||
| NM_000466.2:c.3224C>T (PEX1) | NP_000457.1:p.Ser1075Phe | |
| NM_001282677.1:c.3053C>T (PEX1) | NP_001269606.1:p.Ser1018Phe | |
| NM_001282678.1:c.2600C>T (PEX1) | NP_001269607.1:p.Ser867Phe | |
| XM_005250433.3:c.1475C>T (PEX1) | XP_005250490.1:p.Ser492Phe | |
| XR_242246.3:n.3320C>T (PEX1) | ||
| XM_017012319.2:c.1475C>T (PEX1) | XP_016867808.1:p.Ser492Phe | |
| XR_001744808.2:n.2251C>T (PEX1) | ||
| XR_001744842.2:n.2524G>A (GATAD1) | ||
| XR_001744843.2:n.2455G>A (GATAD1) | ||
| XR_002956472.1:n.2581G>A (GATAD1) | ||
| XR_002956473.1:n.2612G>A (GATAD1) | ||
| XR_002956474.1:n.2529G>A (GATAD1) | ||
| XR_242246.5:n.3271C>T (PEX1) | ||
| XR_927494.3:n.1306G>A (GATAD1) | ||
| XR_927500.3:n.1303G>A (GATAD1) | ||
| XR_927503.3:n.1237G>A (GATAD1) | ||
| NM_000466.3:c.3224C>T (PEX1) MANE Select | NP_000457.1:p.Ser1075Phe | |
| NM_001282677.2:c.3053C>T (PEX1) | NP_001269606.1:p.Ser1018Phe | |
| NM_001282678.2:c.2600C>T (PEX1) | NP_001269607.1:p.Ser867Phe |