Linked Data
ClinVar Variation Id:
1763425
ClinVar RCV Id:
RCV002414373
MyVariant Identifiers:
chr1:g.114442796G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113900174G>A , CM000663.2:g.113900174G>A | GRCh38 |
| NC_000001.10:g.114442796G>A , CM000663.1:g.114442796G>A | GRCh37 |
| NC_000001.9:g.114244319G>A | NCBI36 |
| NG_031901.1:g.9946C>T | |
| NG_057565.1:g.556G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.619C>T (AP4B1) | ENSP00000358577.2:p.Leu207= | |
| ENST00000369567.6:c.340C>T (AP4B1) | ENSP00000358580.1:p.Leu114= | |
| ENST00000369571.3:c.844C>T (AP4B1) | ENSP00000358584.3:p.Leu282= | |
| ENST00000432415.6:c.340C>T (AP4B1) | ENSP00000393622.2:p.Leu114= | |
| ENST00000460653.2:c.844C>T (AP4B1) | ENSP00000518881.1:p.Leu282= | |
| ENST00000484201.6:c.523+96C>T (AP4B1) | ENSP00000518883.1:n.523+96C>T | |
| ENST00000489092.6:c.*512C>T (AP4B1) | ENSP00000518884.1:n.*512C>T | |
| ENST00000489499.6:c.*186C>T (AP4B1) | ENSP00000518882.1:n.*186C>T | |
| ENST00000713588.1:c.844C>T (AP4B1) | ENSP00000518880.1:p.Leu282= | |
| ENST00000713590.1:c.844C>T (AP4B1) | ENSP00000518886.1:p.Leu282= | |
| ENST00000369569.6:c.844C>T (AP4B1) MANE Select | ENSP00000358582.1:p.Leu282= | |
| ENST00000256658.8:c.844C>T (AP4B1) | ENSP00000256658.4:p.Leu282= | |
| ENST00000369564.5:c.619C>T (AP4B1) | ENSP00000358577.1:p.Leu207= | |
| ENST00000369567.5:c.340C>T (AP4B1) | ENSP00000358580.1:p.Leu114= | |
| ENST00000369569.5:c.844C>T (AP4B1) | ENSP00000358582.1:p.Leu282= | |
| ENST00000432415.5:c.340C>T (AP4B1) | ENSP00000393622.1:p.Leu114= | |
| ENST00000479285.5:n.72C>T (AP4B1) | ||
| ENST00000484201.5:n.714+96C>T (AP4B1) | ||
| ENST00000489092.5:n.843C>T (AP4B1) | ||
| ENST00000489499.5:n.812C>T (AP4B1) | ||
| NM_001253852.1:c.844C>T (AP4B1) | NP_001240781.1:p.Leu282= | |
| NM_001253852.2:c.844C>T (AP4B1) | NP_001240781.1:p.Leu282= | |
| NM_001253853.1:c.547C>T (AP4B1) | NP_001240782.1:p.Leu183= | |
| NM_001253853.2:c.547C>T (AP4B1) | NP_001240782.1:p.Leu183= | |
| NM_001308312.1:c.340C>T (AP4B1) | NP_001295241.1:p.Leu114= | |
| NM_006594.3:c.844C>T (AP4B1) | NP_006585.2:p.Leu282= | |
| NM_006594.4:c.844C>T (AP4B1) | NP_006585.2:p.Leu282= | |
| NR_037864.1:n.671G>A (AP4B1-AS1) | ||
| NR_125965.1:n.839G>A (AP4B1-AS1) | ||
| XM_005270381.2:c.844C>T (AP4B1) | XP_005270438.1:p.Leu282= | |
| XM_005270382.3:c.844C>T (AP4B1) | XP_005270439.1:p.Leu282= | |
| XM_011540523.1:c.619C>T (AP4B1) | XP_011538825.1:p.Leu207= | |
| XM_011540524.1:c.619C>T (AP4B1) | XP_011538826.1:p.Leu207= | |
| XM_011540525.1:c.565C>T (AP4B1) | XP_011538827.1:p.Leu189= | |
| XM_011540527.1:c.226C>T (AP4B1) | XP_011538829.1:p.Leu76= | |
| XR_246227.1:n.1026C>T (AP4B1) | ||
| XR_246228.2:n.1026C>T (AP4B1) | ||
| XM_011540523.3:c.619C>T (AP4B1) | XP_011538825.1:p.Leu207= | |
| XM_011540525.3:c.565C>T (AP4B1) | XP_011538827.1:p.Leu189= | |
| XM_017000089.2:c.844C>T (AP4B1) | XP_016855578.1:p.Leu282= | |
| XM_017000090.1:c.340C>T (AP4B1) | XP_016855579.1:p.Leu114= | |
| XM_017000091.2:c.565C>T (AP4B1) | XP_016855580.1:p.Leu189= | |
| XM_017000092.2:c.-401C>T (AP4B1) | XP_016855581.1:n.-401C>T | |
| XM_017000093.2:c.844C>T (AP4B1) | XP_016855582.1:p.Leu282= | |
| XM_024452422.1:c.565C>T (AP4B1) | XP_024308190.1:p.Leu189= | |
| XM_024452423.1:c.844C>T (AP4B1) | XP_024308191.1:p.Leu282= | |
| XM_024452435.1:c.619C>T (AP4B1) | XP_024308203.1:p.Leu207= | |
| XM_024452441.1:c.340C>T (AP4B1) | XP_024308209.1:p.Leu114= | |
| XR_001736928.2:n.1046C>T (AP4B1) | ||
| XR_001736930.2:n.1046C>T (AP4B1) | ||
| XR_002958805.1:n.1046C>T (AP4B1) | ||
| XR_002958806.1:n.1046C>T (AP4B1) | ||
| XR_002958807.1:n.926C>T (AP4B1) | ||
| NM_001253852.3:c.844C>T (AP4B1) MANE Select | NP_001240781.1:p.Leu282= | |
| NM_001253853.3:c.547C>T (AP4B1) | NP_001240782.1:p.Leu183= | |
| NM_001308312.2:c.340C>T (AP4B1) | NP_001295241.1:p.Leu114= | |
| NM_006594.5:c.844C>T (AP4B1) | NP_006585.2:p.Leu282= |