Canonical Allele Identifier: CA1015809

Gene: AP4B1 AP4B1-AS1

Linked Data

• ClinVar Variation Id: 389026
• ClinVar RCV Id: RCV000426722 ; RCV001849372
• dbSNP Id: rs746890435
• ExAC: 1:114439062 A / G
• gnomAD v4: 1-113896440-A-G
• MyVariant Identifiers: chr1:g.114439062A>G (hg19) ; chr1:g.113896440A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896440A>G , CM000663.2:g.113896440A>G	GRCh38
NC_000001.10:g.114439062A>G , CM000663.1:g.114439062A>G	GRCh37
NC_000001.9:g.114240585A>G	NCBI36
NG_031901.1:g.13680T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.1103T>C (AP4B1)	ENSP00000358577.2:p.Leu368Pro
ENST00000369567.6:c.824T>C (AP4B1)	ENSP00000358580.1:p.Leu275Pro
ENST00000369571.3:c.1328T>C (AP4B1)	ENSP00000358584.3:p.Leu443Pro
ENST00000432415.6:c.824T>C (AP4B1)	ENSP00000393622.2:p.Leu275Pro
ENST00000460653.2:c.*398T>C (AP4B1)	ENSP00000518881.1:n.*398T>C
ENST00000484201.6:c.*78T>C (AP4B1)	ENSP00000518883.1:n.*78T>C
ENST00000489499.6:c.*670T>C (AP4B1)	ENSP00000518882.1:n.*670T>C
ENST00000713588.1:c.*439T>C (AP4B1)	ENSP00000518880.1:n.*439T>C
ENST00000713590.1:c.1328T>C (AP4B1)	ENSP00000518886.1:p.Leu443Pro
ENST00000369569.6:c.1328T>C (AP4B1) MANE Select	ENSP00000358582.1:p.Leu443Pro
ENST00000256658.8:c.1328T>C (AP4B1)	ENSP00000256658.4:p.Leu443Pro
ENST00000369567.5:c.824T>C (AP4B1)	ENSP00000358580.1:p.Leu275Pro
ENST00000369569.5:c.1328T>C (AP4B1)	ENSP00000358582.1:p.Leu443Pro
ENST00000462591.1:n.1500T>C (AP4B1)
ENST00000479285.5:n.556T>C (AP4B1)
ENST00000479801.1:n.162T>C (AP4B1)
ENST00000484201.5:n.890T>C (AP4B1)
NM_001253852.1:c.1328T>C (AP4B1)	NP_001240781.1:p.Leu443Pro
NM_001253852.2:c.1328T>C (AP4B1)	NP_001240781.1:p.Leu443Pro
NM_001253853.1:c.1031T>C (AP4B1)	NP_001240782.1:p.Leu344Pro
NM_001253853.2:c.1031T>C (AP4B1)	NP_001240782.1:p.Leu344Pro
NM_001308312.1:c.824T>C (AP4B1)	NP_001295241.1:p.Leu275Pro
NM_006594.3:c.1328T>C (AP4B1)	NP_006585.2:p.Leu443Pro
NM_006594.4:c.1328T>C (AP4B1)	NP_006585.2:p.Leu443Pro
NR_037864.1:n.247-1428A>G (AP4B1-AS1)
NR_125965.1:n.415-1428A>G (AP4B1-AS1)
XM_005270381.2:c.1199-402T>C (AP4B1)	XP_005270438.1:n.1199-402T>C
XM_011540523.1:c.1103T>C (AP4B1)	XP_011538825.1:p.Leu368Pro
XM_011540524.1:c.1103T>C (AP4B1)	XP_011538826.1:p.Leu368Pro
XM_011540525.1:c.1049T>C (AP4B1)	XP_011538827.1:p.Leu350Pro
XM_011540527.1:c.710T>C (AP4B1)	XP_011538829.1:p.Leu237Pro
XM_011540528.1:c.353T>C (AP4B1)	XP_011538830.1:p.Leu118Pro
XR_246227.1:n.1485-402T>C (AP4B1)
XM_011540523.3:c.1103T>C (AP4B1)	XP_011538825.1:p.Leu368Pro
XM_011540525.3:c.1049T>C (AP4B1)	XP_011538827.1:p.Leu350Pro
XM_017000089.2:c.1199-402T>C (AP4B1)	XP_016855578.1:n.1199-402T>C
XM_017000090.1:c.824T>C (AP4B1)	XP_016855579.1:p.Leu275Pro
XM_017000091.2:c.920-402T>C (AP4B1)	XP_016855580.1:n.920-402T>C
XM_017000092.2:c.353T>C (AP4B1)	XP_016855581.1:p.Leu118Pro
XM_024452422.1:c.1049T>C (AP4B1)	XP_024308190.1:p.Leu350Pro
XM_024452423.1:c.1199-402T>C (AP4B1)	XP_024308191.1:n.1199-402T>C
XM_024452435.1:c.974-402T>C (AP4B1)	XP_024308203.1:n.974-402T>C
XM_024452441.1:c.695-402T>C (AP4B1)	XP_024308209.1:n.695-402T>C
XR_001736928.2:n.1758T>C (AP4B1)
XR_001736930.2:n.1902T>C (AP4B1)
XR_002958805.1:n.1505-402T>C (AP4B1)
XR_002958806.1:n.1799T>C (AP4B1)
XR_002958807.1:n.1638T>C (AP4B1)
NM_001253852.3:c.1328T>C (AP4B1) MANE Select	NP_001240781.1:p.Leu443Pro
NM_001253853.3:c.1031T>C (AP4B1)	NP_001240782.1:p.Leu344Pro
NM_001308312.2:c.824T>C (AP4B1)	NP_001295241.1:p.Leu275Pro
NM_006594.5:c.1328T>C (AP4B1)	NP_006585.2:p.Leu443Pro