Canonical Allele Identifier: CA171118
Gene: AP4B1 HGNC NCBI
DCLRE1B HGNC NCBI

Linked Data

ClinVar Variation Id: 157726
dbSNP Id: rs117872964

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113904649T>C , CM000663.2:g.113904649T>C GRCh38
NC_000001.10:g.114447271T>C , CM000663.1:g.114447271T>C GRCh37
NC_000001.9:g.114248794T>C NCBI36
NG_031901.1:g.5471A>G
NG_057565.1:g.5031T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369564.6:c.69A>G (AP4B1) ENSP00000358577.2:p.Gln23=
ENST00000369567.6:c.69A>G (AP4B1) ENSP00000358580.1:p.Gln23=
ENST00000369571.3:c.69A>G (AP4B1) ENSP00000358584.3:p.Gln23=
ENST00000432415.6:c.69A>G (AP4B1) ENSP00000393622.2:p.Gln23=
ENST00000460653.2:c.69A>G (AP4B1) ENSP00000518881.1:p.Gln23=
ENST00000484201.6:c.69A>G (AP4B1) ENSP00000518883.1:p.Gln23=
ENST00000489092.6:c.69A>G (AP4B1) ENSP00000518884.1:p.Gln23=
ENST00000489499.6:c.69A>G (AP4B1) ENSP00000518882.1:p.Gln23=
ENST00000713588.1:c.69A>G (AP4B1) ENSP00000518880.1:p.Gln23=
ENST00000713590.1:c.69A>G (AP4B1) ENSP00000518886.1:p.Gln23=
ENST00000697125.1:n.31T>C (DCLRE1B)
ENST00000369569.6:c.69A>G (AP4B1) MANE Select ENSP00000358582.1:p.Gln23=
ENST00000256658.8:c.69A>G (AP4B1) ENSP00000256658.4:p.Gln23=
ENST00000369564.5:c.69A>G (AP4B1) ENSP00000358577.1:p.Gln23=
ENST00000369567.5:c.69A>G (AP4B1) ENSP00000358580.1:p.Gln23=
ENST00000369569.5:c.69A>G (AP4B1) ENSP00000358582.1:p.Gln23=
ENST00000369571.2:c.69A>G (AP4B1) ENSP00000358584.2:p.Gln23=
ENST00000432415.5:c.69A>G (AP4B1) ENSP00000393622.1:p.Gln23=
ENST00000484201.5:n.260A>G (AP4B1)
ENST00000489092.5:n.196A>G (AP4B1)
ENST00000489499.5:n.185A>G (AP4B1)
NM_001253852.1:c.69A>G (AP4B1) NP_001240781.1:p.Gln23=
NM_001253852.2:c.69A>G (AP4B1) NP_001240781.1:p.Gln23=
NM_001253853.1:c.-101A>G (AP4B1) NP_001240782.1:n.-101A>G
NM_001253853.2:c.-101A>G (AP4B1) NP_001240782.1:n.-101A>G
NM_001308312.1:c.69A>G (AP4B1) NP_001295241.1:p.Gln23=
NM_006594.3:c.69A>G (AP4B1) NP_006585.2:p.Gln23=
NM_006594.4:c.69A>G (AP4B1) NP_006585.2:p.Gln23=
XM_005270381.2:c.69A>G (AP4B1) XP_005270438.1:p.Gln23=
XM_005270382.3:c.69A>G (AP4B1) XP_005270439.1:p.Gln23=
XM_011540523.1:c.69A>G (AP4B1) XP_011538825.1:p.Gln23=
XM_011540524.1:c.69A>G (AP4B1) XP_011538826.1:p.Gln23=
XM_011540525.1:c.69A>G (AP4B1) XP_011538827.1:p.Gln23=
XM_011540527.1:c.-402A>G (AP4B1) XP_011538829.1:n.-402A>G
XR_246227.1:n.251A>G (AP4B1)
XR_246228.2:n.251A>G (AP4B1)
NM_001319947.2:c.-390T>C (DCLRE1B) NP_001306876.1:n.-390T>C
XM_011540523.3:c.69A>G (AP4B1) XP_011538825.1:p.Gln23=
XM_011540525.3:c.69A>G (AP4B1) XP_011538827.1:p.Gln23=
XM_017000089.2:c.69A>G (AP4B1) XP_016855578.1:p.Gln23=
XM_017000090.1:c.69A>G (AP4B1) XP_016855579.1:p.Gln23=
XM_017000091.2:c.69A>G (AP4B1) XP_016855580.1:p.Gln23=
XM_017000092.2:c.-1176A>G (AP4B1) XP_016855581.1:n.-1176A>G
XM_017000093.2:c.69A>G (AP4B1) XP_016855582.1:p.Gln23=
XM_024452422.1:c.69A>G (AP4B1) XP_024308190.1:p.Gln23=
XM_024452423.1:c.69A>G (AP4B1) XP_024308191.1:p.Gln23=
XM_024452435.1:c.69A>G (AP4B1) XP_024308203.1:p.Gln23=
XM_024452441.1:c.69A>G (AP4B1) XP_024308209.1:p.Gln23=
XR_001736928.2:n.271A>G (AP4B1)
XR_001736930.2:n.271A>G (AP4B1)
XR_002958805.1:n.271A>G (AP4B1)
XR_002958806.1:n.271A>G (AP4B1)
XR_002958807.1:n.151A>G (AP4B1)
NM_001253852.3:c.69A>G (AP4B1) MANE Select NP_001240781.1:p.Gln23=
NM_001253853.3:c.-101A>G (AP4B1) NP_001240782.1:n.-101A>G
NM_001308312.2:c.69A>G (AP4B1) NP_001295241.1:p.Gln23=
NM_006594.5:c.69A>G (AP4B1) NP_006585.2:p.Gln23=