Linked Data
dbSNP Id:
rs199737424
gnomAD v4:
7-92494421-T-C
MyVariant Identifiers:
chr7:g.92494421T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494421T>C , CM000669.2:g.92494421T>C | GRCh38 |
| NC_000007.13:g.92123735T>C , CM000669.1:g.92123735T>C | GRCh37 |
| NC_000007.12:g.91961671T>C | NCBI36 |
| NG_008341.1:g.39111A>G | |
| NG_008341.2:g.39111A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2927-25A>G (PEX1) MANE Select | ENSP00000248633.4:n.2927-25A>G | |
| ENST00000248633.8:c.2927-25A>G (PEX1) | ENSP00000248633.4:n.2927-25A>G | |
| ENST00000428214.5:c.2756-25A>G (PEX1) | ENSP00000394413.1:n.2756-25A>G | |
| ENST00000438045.5:c.1961-25A>G (PEX1) | ENSP00000410438.1:n.1961-25A>G | |
| ENST00000484913.5:n.2966-25A>G (PEX1) | ||
| ENST00000496420.5:n.2819-25A>G (PEX1) | ||
| NM_000466.2:c.2927-25A>G (PEX1) | NP_000457.1:n.2927-25A>G | |
| NM_001282677.1:c.2756-25A>G (PEX1) | NP_001269606.1:n.2756-25A>G | |
| NM_001282678.1:c.2303-25A>G (PEX1) | NP_001269607.1:n.2303-25A>G | |
| XM_005250433.3:c.1178-25A>G (PEX1) | XP_005250490.1:n.1178-25A>G | |
| XR_242246.3:n.3023-25A>G (PEX1) | ||
| XM_017012319.2:c.1178-25A>G (PEX1) | XP_016867808.1:n.1178-25A>G | |
| XR_001744808.2:n.1954-25A>G (PEX1) | ||
| XR_001744843.2:n.5390T>C (GATAD1) | ||
| XR_242246.5:n.2974-25A>G (PEX1) | ||
| XR_927494.3:n.4241T>C (GATAD1) | ||
| XR_927503.3:n.4172T>C (GATAD1) | ||
| NM_000466.3:c.2927-25A>G (PEX1) MANE Select | NP_000457.1:n.2927-25A>G | |
| NM_001282677.2:c.2756-25A>G (PEX1) | NP_001269606.1:n.2756-25A>G | |
| NM_001282678.2:c.2303-25A>G (PEX1) | NP_001269607.1:n.2303-25A>G |