Linked Data
ClinVar Variation Id:
805851
dbSNP Id:
rs142501705
ExAC:
19:45667499 A / T
gnomAD v2:
19-45667499-A-T
gnomAD v3:
19-45164241-A-T
gnomAD v4:
19-45164241-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45164241A>T , CM000681.2:g.45164241A>T | GRCh38 |
| NC_000019.9:g.45667499A>T , CM000681.1:g.45667499A>T | GRCh37 |
| NC_000019.8:g.50359339A>T | NCBI36 |
| NG_033044.1:g.19003T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000006275.8:c.319T>A (TRAPPC6A) | ENSP00000006275.3:p.Tyr107Asn | |
| ENST00000585934.1:c.277T>A (TRAPPC6A) MANE Select | ENSP00000468612.1:p.Tyr93Asn | |
| ENST00000587566.5:c.-277+84864A>T (MARK4) | ENSP00000465414.1:n.-277+84864A>T | |
| ENST00000588062.5:c.209T>A (TRAPPC6A) | ENSP00000468363.1:p.Leu70Gln | |
| ENST00000592647.1:c.251T>A (TRAPPC6A) | ENSP00000468182.1:p.Leu84Gln | |
| NM_001270891.1:c.277T>A (TRAPPC6A) | NP_001257820.1:p.Tyr93Asn | |
| NM_001270892.1:c.251T>A (TRAPPC6A) | NP_001257821.1:p.Leu84Gln | |
| NM_001270893.1:c.209T>A (TRAPPC6A) | NP_001257822.1:p.Leu70Gln | |
| NM_024108.2:c.319T>A (TRAPPC6A) | NP_077013.1:p.Tyr107Asn | |
| XM_017027295.2:c.356T>A (TRAPPC6A) | XP_016882784.1:p.Leu119Gln | |
| NM_001270891.2:c.277T>A (TRAPPC6A) MANE Select | NP_001257820.1:p.Tyr93Asn | |
| NM_001270892.2:c.251T>A (TRAPPC6A) | NP_001257821.1:p.Leu84Gln | |
| NM_001270893.2:c.209T>A (TRAPPC6A) | NP_001257822.1:p.Leu70Gln | |
| NM_024108.3:c.319T>A (TRAPPC6A) | NP_077013.1:p.Tyr107Asn |