Linked Data
ClinVar Variation Id:
2376758
ClinVar RCV Id:
RCV004209039
dbSNP Id:
rs146753741
ExAC:
18:3879164 G / A
gnomAD v2:
18-3879164-G-A
gnomAD v3:
18-3879164-G-A
gnomAD v4:
18-3879164-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.3879164G>A , CM000680.2:g.3879164G>A | GRCh38 |
| NC_000018.9:g.3879164G>A , CM000680.1:g.3879164G>A | GRCh37 |
| NC_000018.8:g.3869164G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315677.8:c.905C>T (DLGAP1) MANE Select | ENSP00000316377.3:p.Ala302Val | |
| ENST00000639615.1:c.905C>T (DLGAP1) | ENSP00000491005.1:p.Ala302Val | |
| ENST00000315677.7:c.905C>T (DLGAP1) | ENSP00000316377.3:p.Ala302Val | |
| ENST00000498188.5:n.913C>T (DLGAP1) | ||
| ENST00000581527.5:c.905C>T (DLGAP1) | ENSP00000463864.1:p.Ala302Val | |
| ENST00000584874.5:c.905C>T (DLGAP1) | ENSP00000462882.1:p.Ala302Val | |
| NM_001242761.1:c.905C>T (DLGAP1) | NP_001229690.1:p.Ala302Val | |
| NM_004746.3:c.905C>T (DLGAP1) | NP_004737.2:p.Ala302Val | |
| NR_038895.1:n.112+873G>A (DLGAP1-AS3) | ||
| XM_005258171.1:c.905C>T (DLGAP1) | XP_005258228.1:p.Ala302Val | |
| XM_005258172.1:c.905C>T (DLGAP1) | XP_005258229.1:p.Ala302Val | |
| XM_011525770.1:c.905C>T (DLGAP1) | XP_011524072.1:p.Ala302Val | |
| XM_011525771.1:c.905C>T (DLGAP1) | XP_011524073.1:p.Ala302Val | |
| XR_935073.1:n.1476C>T (DLGAP1) | ||
| XR_935107.1:n.460+757G>A | ||
| XM_005258171.3:c.905C>T (DLGAP1) | XP_005258228.1:p.Ala302Val | |
| XM_011525770.3:c.905C>T (DLGAP1) | XP_011524072.1:p.Ala302Val | |
| XM_011525771.3:c.905C>T (DLGAP1) | XP_011524073.1:p.Ala302Val | |
| XM_024451288.1:c.905C>T (DLGAP1) | XP_024307056.1:p.Ala302Val | |
| NM_004746.4:c.905C>T (DLGAP1) MANE Select | NP_004737.2:p.Ala302Val | |
| NM_001242761.2:c.905C>T (DLGAP1) | NP_001229690.1:p.Ala302Val | |
| NM_001398525.1:c.905C>T (DLGAP1) | NP_001385454.1:p.Ala302Val | |
| NM_001398526.1:c.905C>T (DLGAP1) | NP_001385455.1:p.Ala302Val | |
| NM_001398527.1:c.905C>T (DLGAP1) | NP_001385456.1:p.Ala302Val | |
| NM_001398528.1:c.905C>T (DLGAP1) | NP_001385457.1:p.Ala302Val |