Linked Data
ClinVar Variation Id:
539528
dbSNP Id:
rs111785152
ExAC:
1:114442742 C / A
gnomAD v2:
1-114442742-C-A
gnomAD v3:
1-113900120-C-A
gnomAD v4:
1-113900120-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113900120C>A , CM000663.2:g.113900120C>A | GRCh38 |
| NC_000001.10:g.114442742C>A , CM000663.1:g.114442742C>A | GRCh37 |
| NC_000001.9:g.114244265C>A | NCBI36 |
| NG_031901.1:g.10000G>T | |
| NG_057565.1:g.502C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.673G>T (AP4B1) | ENSP00000358577.2:p.Val225Leu | |
| ENST00000369567.6:c.394G>T (AP4B1) | ENSP00000358580.1:p.Val132Leu | |
| ENST00000369571.3:c.898G>T (AP4B1) | ENSP00000358584.3:p.Val300Leu | |
| ENST00000432415.6:c.394G>T (AP4B1) | ENSP00000393622.2:p.Val132Leu | |
| ENST00000460653.2:c.898G>T (AP4B1) | ENSP00000518881.1:p.Val300Leu | |
| ENST00000484201.6:c.523+150G>T (AP4B1) | ENSP00000518883.1:n.523+150G>T | |
| ENST00000489092.6:c.*566G>T (AP4B1) | ENSP00000518884.1:n.*566G>T | |
| ENST00000489499.6:c.*240G>T (AP4B1) | ENSP00000518882.1:n.*240G>T | |
| ENST00000713588.1:c.898G>T (AP4B1) | ENSP00000518880.1:p.Val300Leu | |
| ENST00000713590.1:c.898G>T (AP4B1) | ENSP00000518886.1:p.Val300Leu | |
| ENST00000369569.6:c.898G>T (AP4B1) MANE Select | ENSP00000358582.1:p.Val300Leu | |
| ENST00000256658.8:c.898G>T (AP4B1) | ENSP00000256658.4:p.Val300Leu | |
| ENST00000369564.5:c.673G>T (AP4B1) | ENSP00000358577.1:p.Val225Leu | |
| ENST00000369567.5:c.394G>T (AP4B1) | ENSP00000358580.1:p.Val132Leu | |
| ENST00000369569.5:c.898G>T (AP4B1) | ENSP00000358582.1:p.Val300Leu | |
| ENST00000432415.5:c.394G>T (AP4B1) | ENSP00000393622.1:p.Val132Leu | |
| ENST00000479285.5:n.126G>T (AP4B1) | ||
| ENST00000484201.5:n.714+150G>T (AP4B1) | ||
| ENST00000489092.5:n.897G>T (AP4B1) | ||
| ENST00000489499.5:n.866G>T (AP4B1) | ||
| NM_001253852.1:c.898G>T (AP4B1) | NP_001240781.1:p.Val300Leu | |
| NM_001253852.2:c.898G>T (AP4B1) | NP_001240781.1:p.Val300Leu | |
| NM_001253853.1:c.601G>T (AP4B1) | NP_001240782.1:p.Val201Leu | |
| NM_001253853.2:c.601G>T (AP4B1) | NP_001240782.1:p.Val201Leu | |
| NM_001308312.1:c.394G>T (AP4B1) | NP_001295241.1:p.Val132Leu | |
| NM_006594.3:c.898G>T (AP4B1) | NP_006585.2:p.Val300Leu | |
| NM_006594.4:c.898G>T (AP4B1) | NP_006585.2:p.Val300Leu | |
| NR_037864.1:n.617C>A (AP4B1-AS1) | ||
| NR_125965.1:n.785C>A (AP4B1-AS1) | ||
| XM_005270381.2:c.898G>T (AP4B1) | XP_005270438.1:p.Val300Leu | |
| XM_005270382.3:c.898G>T (AP4B1) | XP_005270439.1:p.Val300Leu | |
| XM_011540523.1:c.673G>T (AP4B1) | XP_011538825.1:p.Val225Leu | |
| XM_011540524.1:c.673G>T (AP4B1) | XP_011538826.1:p.Val225Leu | |
| XM_011540525.1:c.619G>T (AP4B1) | XP_011538827.1:p.Val207Leu | |
| XM_011540527.1:c.280G>T (AP4B1) | XP_011538829.1:p.Val94Leu | |
| XR_246227.1:n.1080G>T (AP4B1) | ||
| XR_246228.2:n.1080G>T (AP4B1) | ||
| XM_011540523.3:c.673G>T (AP4B1) | XP_011538825.1:p.Val225Leu | |
| XM_011540525.3:c.619G>T (AP4B1) | XP_011538827.1:p.Val207Leu | |
| XM_017000089.2:c.898G>T (AP4B1) | XP_016855578.1:p.Val300Leu | |
| XM_017000090.1:c.394G>T (AP4B1) | XP_016855579.1:p.Val132Leu | |
| XM_017000091.2:c.619G>T (AP4B1) | XP_016855580.1:p.Val207Leu | |
| XM_017000092.2:c.-347G>T (AP4B1) | XP_016855581.1:n.-347G>T | |
| XM_017000093.2:c.898G>T (AP4B1) | XP_016855582.1:p.Val300Leu | |
| XM_024452422.1:c.619G>T (AP4B1) | XP_024308190.1:p.Val207Leu | |
| XM_024452423.1:c.898G>T (AP4B1) | XP_024308191.1:p.Val300Leu | |
| XM_024452435.1:c.673G>T (AP4B1) | XP_024308203.1:p.Val225Leu | |
| XM_024452441.1:c.394G>T (AP4B1) | XP_024308209.1:p.Val132Leu | |
| XR_001736928.2:n.1100G>T (AP4B1) | ||
| XR_001736930.2:n.1100G>T (AP4B1) | ||
| XR_002958805.1:n.1100G>T (AP4B1) | ||
| XR_002958806.1:n.1100G>T (AP4B1) | ||
| XR_002958807.1:n.980G>T (AP4B1) | ||
| NM_001253852.3:c.898G>T (AP4B1) MANE Select | NP_001240781.1:p.Val300Leu | |
| NM_001253853.3:c.601G>T (AP4B1) | NP_001240782.1:p.Val201Leu | |
| NM_001308312.2:c.394G>T (AP4B1) | NP_001295241.1:p.Val132Leu | |
| NM_006594.5:c.898G>T (AP4B1) | NP_006585.2:p.Val300Leu |