Canonical Allele Identifier: CA341709755
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113896272A>C , CM000663.2:g.113896272A>C GRCh38
NC_000001.10:g.114438894A>C , CM000663.1:g.114438894A>C GRCh37
NC_000001.9:g.114240417A>C NCBI36
NG_031901.1:g.13848T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369564.6:c.1271T>G (AP4B1) ENSP00000358577.2:p.Leu424Trp
ENST00000369567.6:c.992T>G (AP4B1) ENSP00000358580.1:p.Leu331Trp
ENST00000369571.3:c.1496T>G (AP4B1) ENSP00000358584.3:p.Leu499Trp
ENST00000432415.6:c.992T>G (AP4B1) ENSP00000393622.2:p.Leu331Trp
ENST00000460653.2:c.*566T>G (AP4B1) ENSP00000518881.1:n.*566T>G
ENST00000484201.6:c.*246T>G (AP4B1) ENSP00000518883.1:n.*246T>G
ENST00000489499.6:c.*838T>G (AP4B1) ENSP00000518882.1:n.*838T>G
ENST00000713588.1:c.*607T>G (AP4B1) ENSP00000518880.1:n.*607T>G
ENST00000713590.1:c.1496T>G (AP4B1) ENSP00000518886.1:p.Leu499Trp
ENST00000369569.6:c.1496T>G (AP4B1) MANE Select ENSP00000358582.1:p.Leu499Trp
ENST00000256658.8:c.1496T>G (AP4B1) ENSP00000256658.4:p.Leu499Trp
ENST00000369567.5:c.992T>G (AP4B1) ENSP00000358580.1:p.Leu331Trp
ENST00000369569.5:c.1496T>G (AP4B1) ENSP00000358582.1:p.Leu499Trp
ENST00000462591.1:n.1668T>G (AP4B1)
ENST00000479285.5:n.724T>G (AP4B1)
ENST00000479801.1:n.330T>G (AP4B1)
NM_001253852.1:c.1496T>G (AP4B1) NP_001240781.1:p.Leu499Trp
NM_001253852.2:c.1496T>G (AP4B1) NP_001240781.1:p.Leu499Trp
NM_001253853.1:c.1199T>G (AP4B1) NP_001240782.1:p.Leu400Trp
NM_001253853.2:c.1199T>G (AP4B1) NP_001240782.1:p.Leu400Trp
NM_001308312.1:c.992T>G (AP4B1) NP_001295241.1:p.Leu331Trp
NM_006594.3:c.1496T>G (AP4B1) NP_006585.2:p.Leu499Trp
NM_006594.4:c.1496T>G (AP4B1) NP_006585.2:p.Leu499Trp
NR_037864.1:n.247-1596A>C (AP4B1-AS1)
NR_125965.1:n.415-1596A>C (AP4B1-AS1)
XM_005270381.2:c.1199-234T>G (AP4B1) XP_005270438.1:n.1199-234T>G
XM_011540523.1:c.1271T>G (AP4B1) XP_011538825.1:p.Leu424Trp
XM_011540524.1:c.1271T>G (AP4B1) XP_011538826.1:p.Leu424Trp
XM_011540525.1:c.1217T>G (AP4B1) XP_011538827.1:p.Leu406Trp
XM_011540527.1:c.878T>G (AP4B1) XP_011538829.1:p.Leu293Trp
XM_011540528.1:c.521T>G (AP4B1) XP_011538830.1:p.Leu174Trp
XR_246227.1:n.1485-234T>G (AP4B1)
XM_011540523.3:c.1271T>G (AP4B1) XP_011538825.1:p.Leu424Trp
XM_011540525.3:c.1217T>G (AP4B1) XP_011538827.1:p.Leu406Trp
XM_017000089.2:c.1199-234T>G (AP4B1) XP_016855578.1:n.1199-234T>G
XM_017000090.1:c.992T>G (AP4B1) XP_016855579.1:p.Leu331Trp
XM_017000091.2:c.920-234T>G (AP4B1) XP_016855580.1:n.920-234T>G
XM_017000092.2:c.521T>G (AP4B1) XP_016855581.1:p.Leu174Trp
XM_024452422.1:c.1217T>G (AP4B1) XP_024308190.1:p.Leu406Trp
XM_024452423.1:c.1199-234T>G (AP4B1) XP_024308191.1:n.1199-234T>G
XM_024452435.1:c.974-234T>G (AP4B1) XP_024308203.1:n.974-234T>G
XM_024452441.1:c.695-234T>G (AP4B1) XP_024308209.1:n.695-234T>G
XR_001736928.2:n.1926T>G (AP4B1)
XR_001736930.2:n.2070T>G (AP4B1)
XR_002958805.1:n.1505-234T>G (AP4B1)
XR_002958806.1:n.1967T>G (AP4B1)
XR_002958807.1:n.1806T>G (AP4B1)
NM_001253852.3:c.1496T>G (AP4B1) MANE Select NP_001240781.1:p.Leu499Trp
NM_001253853.3:c.1199T>G (AP4B1) NP_001240782.1:p.Leu400Trp
NM_001308312.2:c.992T>G (AP4B1) NP_001295241.1:p.Leu331Trp
NM_006594.5:c.1496T>G (AP4B1) NP_006585.2:p.Leu499Trp