Linked Data
ClinVar Variation Id:
408760
ClinVar RCV Id:
RCV000475749
dbSNP Id:
rs760880631
ExAC:
1:114442853 C / T
gnomAD v2:
1-114442853-C-T
gnomAD v3:
1-113900231-C-T
gnomAD v4:
1-113900231-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113900231C>T , CM000663.2:g.113900231C>T | GRCh38 |
| NC_000001.10:g.114442853C>T , CM000663.1:g.114442853C>T | GRCh37 |
| NC_000001.9:g.114244376C>T | NCBI36 |
| NG_031901.1:g.9889G>A | |
| NG_057565.1:g.613C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.562G>A (AP4B1) | ENSP00000358577.2:p.Ala188Thr | |
| ENST00000369567.6:c.283G>A (AP4B1) | ENSP00000358580.1:p.Ala95Thr | |
| ENST00000369571.3:c.787G>A (AP4B1) | ENSP00000358584.3:p.Ala263Thr | |
| ENST00000432415.6:c.283G>A (AP4B1) | ENSP00000393622.2:p.Ala95Thr | |
| ENST00000460653.2:c.787G>A (AP4B1) | ENSP00000518881.1:p.Ala263Thr | |
| ENST00000484201.6:c.523+39G>A (AP4B1) | ENSP00000518883.1:n.523+39G>A | |
| ENST00000489092.6:c.*455G>A (AP4B1) | ENSP00000518884.1:n.*455G>A | |
| ENST00000489499.6:c.*129G>A (AP4B1) | ENSP00000518882.1:n.*129G>A | |
| ENST00000713588.1:c.787G>A (AP4B1) | ENSP00000518880.1:p.Ala263Thr | |
| ENST00000713590.1:c.787G>A (AP4B1) | ENSP00000518886.1:p.Ala263Thr | |
| ENST00000369569.6:c.787G>A (AP4B1) MANE Select | ENSP00000358582.1:p.Ala263Thr | |
| ENST00000256658.8:c.787G>A (AP4B1) | ENSP00000256658.4:p.Ala263Thr | |
| ENST00000369564.5:c.562G>A (AP4B1) | ENSP00000358577.1:p.Ala188Thr | |
| ENST00000369567.5:c.283G>A (AP4B1) | ENSP00000358580.1:p.Ala95Thr | |
| ENST00000369569.5:c.787G>A (AP4B1) | ENSP00000358582.1:p.Ala263Thr | |
| ENST00000369571.2:c.787G>A (AP4B1) | ||
| ENST00000432415.5:c.283G>A (AP4B1) | ENSP00000393622.1:p.Ala95Thr | |
| ENST00000479285.5:n.15G>A (AP4B1) | ||
| ENST00000484201.5:n.714+39G>A (AP4B1) | ||
| ENST00000489092.5:n.786G>A (AP4B1) | ||
| ENST00000489499.5:n.755G>A (AP4B1) | ||
| NM_001253852.1:c.787G>A (AP4B1) | NP_001240781.1:p.Ala263Thr | |
| NM_001253852.2:c.787G>A (AP4B1) | NP_001240781.1:p.Ala263Thr | |
| NM_001253853.1:c.490G>A (AP4B1) | NP_001240782.1:p.Ala164Thr | |
| NM_001253853.2:c.490G>A (AP4B1) | NP_001240782.1:p.Ala164Thr | |
| NM_001308312.1:c.283G>A (AP4B1) | NP_001295241.1:p.Ala95Thr | |
| NM_006594.3:c.787G>A (AP4B1) | NP_006585.2:p.Ala263Thr | |
| NM_006594.4:c.787G>A (AP4B1) | NP_006585.2:p.Ala263Thr | |
| NR_037864.1:n.728C>T (AP4B1-AS1) | ||
| NR_125965.1:n.896C>T (AP4B1-AS1) | ||
| XM_005270381.2:c.787G>A (AP4B1) | XP_005270438.1:p.Ala263Thr | |
| XM_005270382.3:c.787G>A (AP4B1) | XP_005270439.1:p.Ala263Thr | |
| XM_011540523.1:c.562G>A (AP4B1) | XP_011538825.1:p.Ala188Thr | |
| XM_011540524.1:c.562G>A (AP4B1) | XP_011538826.1:p.Ala188Thr | |
| XM_011540525.1:c.508G>A (AP4B1) | XP_011538827.1:p.Ala170Thr | |
| XM_011540527.1:c.169G>A (AP4B1) | XP_011538829.1:p.Ala57Thr | |
| XR_246227.1:n.969G>A (AP4B1) | ||
| XR_246228.2:n.969G>A (AP4B1) | ||
| XM_011540523.3:c.562G>A (AP4B1) | XP_011538825.1:p.Ala188Thr | |
| XM_011540525.3:c.508G>A (AP4B1) | XP_011538827.1:p.Ala170Thr | |
| XM_017000089.2:c.787G>A (AP4B1) | XP_016855578.1:p.Ala263Thr | |
| XM_017000090.1:c.283G>A (AP4B1) | XP_016855579.1:p.Ala95Thr | |
| XM_017000091.2:c.508G>A (AP4B1) | XP_016855580.1:p.Ala170Thr | |
| XM_017000092.2:c.-458G>A (AP4B1) | XP_016855581.1:n.-458G>A | |
| XM_017000093.2:c.787G>A (AP4B1) | XP_016855582.1:p.Ala263Thr | |
| XM_024452422.1:c.508G>A (AP4B1) | XP_024308190.1:p.Ala170Thr | |
| XM_024452423.1:c.787G>A (AP4B1) | XP_024308191.1:p.Ala263Thr | |
| XM_024452435.1:c.562G>A (AP4B1) | XP_024308203.1:p.Ala188Thr | |
| XM_024452441.1:c.283G>A (AP4B1) | XP_024308209.1:p.Ala95Thr | |
| XR_001736928.2:n.989G>A (AP4B1) | ||
| XR_001736930.2:n.989G>A (AP4B1) | ||
| XR_002958805.1:n.989G>A (AP4B1) | ||
| XR_002958806.1:n.989G>A (AP4B1) | ||
| XR_002958807.1:n.869G>A (AP4B1) | ||
| NM_001253852.3:c.787G>A (AP4B1) MANE Select | NP_001240781.1:p.Ala263Thr | |
| NM_001253853.3:c.490G>A (AP4B1) | NP_001240782.1:p.Ala164Thr | |
| NM_001308312.2:c.283G>A (AP4B1) | NP_001295241.1:p.Ala95Thr | |
| NM_006594.5:c.787G>A (AP4B1) | NP_006585.2:p.Ala263Thr |