Linked Data
ClinVar Variation Id:
360915
dbSNP Id:
rs142994610
ExAC:
7:92120651 T / A
gnomAD v2:
7-92120651-T-A
gnomAD v3:
7-92491337-T-A
gnomAD v4:
7-92491337-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92491337T>A , CM000669.2:g.92491337T>A | GRCh38 |
| NC_000007.13:g.92120651T>A , CM000669.1:g.92120651T>A | GRCh37 |
| NC_000007.12:g.91958587T>A | NCBI36 |
| NG_008341.1:g.42195A>T | |
| NG_008341.2:g.42195A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3373A>T (PEX1) MANE Select | ENSP00000248633.4:p.Met1125Leu | |
| ENST00000248633.8:c.3373A>T (PEX1) | ENSP00000248633.4:p.Met1125Leu | |
| ENST00000428214.5:c.3202A>T (PEX1) | ENSP00000394413.1:p.Met1068Leu | |
| ENST00000438045.5:c.2407A>T (PEX1) | ENSP00000410438.1:p.Met803Leu | |
| ENST00000484913.5:n.3412A>T (PEX1) | ||
| ENST00000496420.5:n.4428A>T (PEX1) | ||
| NM_000466.2:c.3373A>T (PEX1) | NP_000457.1:p.Met1125Leu | |
| NM_001282677.1:c.3202A>T (PEX1) | NP_001269606.1:p.Met1068Leu | |
| NM_001282678.1:c.2749A>T (PEX1) | NP_001269607.1:p.Met917Leu | |
| XM_005250433.3:c.1624A>T (PEX1) | XP_005250490.1:p.Met542Leu | |
| XR_242246.3:n.3469A>T (PEX1) | ||
| XM_017012319.2:c.1624A>T (PEX1) | XP_016867808.1:p.Met542Leu | |
| XR_001744808.2:n.2400A>T (PEX1) | ||
| XR_001744842.2:n.2375T>A (GATAD1) | ||
| XR_001744843.2:n.2306T>A (GATAD1) | ||
| XR_002956472.1:n.2432T>A (GATAD1) | ||
| XR_002956473.1:n.2463T>A (GATAD1) | ||
| XR_002956474.1:n.2380T>A (GATAD1) | ||
| XR_242246.5:n.3420A>T (PEX1) | ||
| XR_927494.3:n.1157T>A (GATAD1) | ||
| XR_927500.3:n.1154T>A (GATAD1) | ||
| XR_927503.3:n.1088T>A (GATAD1) | ||
| NM_000466.3:c.3373A>T (PEX1) MANE Select | NP_000457.1:p.Met1125Leu | |
| NM_001282677.2:c.3202A>T (PEX1) | NP_001269606.1:p.Met1068Leu | |
| NM_001282678.2:c.2749A>T (PEX1) | NP_001269607.1:p.Met917Leu |