Canonical Allele Identifier: CA341714048

Gene: AP4B1 AP4B1-AS1

Linked Data

• ClinVar Variation Id: 2073686
• ClinVar RCV Id: RCV002972076
• MyVariant Identifiers: chr1:g.114443001C>A (hg19) ; chr1:g.113900379C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113900379C>A , CM000663.2:g.113900379C>A	GRCh38
NC_000001.10:g.114443001C>A , CM000663.1:g.114443001C>A	GRCh37
NC_000001.9:g.114244524C>A	NCBI36
NG_031901.1:g.9741G>T
NG_057565.1:g.761C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.414G>T (AP4B1)	ENSP00000358577.2:p.Trp138Cys
ENST00000369567.6:c.135G>T (AP4B1)	ENSP00000358580.1:p.Trp45Cys
ENST00000369571.3:c.639G>T (AP4B1)	ENSP00000358584.3:p.Trp213Cys
ENST00000432415.6:c.135G>T (AP4B1)	ENSP00000393622.2:p.Trp45Cys
ENST00000460653.2:c.639G>T (AP4B1)	ENSP00000518881.1:p.Trp213Cys
ENST00000484201.6:c.414G>T (AP4B1)	ENSP00000518883.1:p.Trp138Cys
ENST00000489092.6:c.*307G>T (AP4B1)	ENSP00000518884.1:n.*307G>T
ENST00000489499.6:c.491G>T (AP4B1)	ENSP00000518882.1:p.Gly164Val
ENST00000713588.1:c.639G>T (AP4B1)	ENSP00000518880.1:p.Trp213Cys
ENST00000713590.1:c.639G>T (AP4B1)	ENSP00000518886.1:p.Trp213Cys
ENST00000369569.6:c.639G>T (AP4B1) MANE Select	ENSP00000358582.1:p.Trp213Cys
ENST00000256658.8:c.639G>T (AP4B1)	ENSP00000256658.4:p.Trp213Cys
ENST00000369564.5:c.414G>T (AP4B1)	ENSP00000358577.1:p.Trp138Cys
ENST00000369567.5:c.135G>T (AP4B1)	ENSP00000358580.1:p.Trp45Cys
ENST00000369569.5:c.639G>T (AP4B1)	ENSP00000358582.1:p.Trp213Cys
ENST00000369571.2:c.639G>T (AP4B1)	ENSP00000358584.2:p.Trp213Cys
ENST00000432415.5:c.135G>T (AP4B1)	ENSP00000393622.1:p.Trp45Cys
ENST00000472122.1:n.535G>T (AP4B1)
ENST00000484201.5:n.605G>T (AP4B1)
ENST00000489092.5:n.638G>T (AP4B1)
ENST00000489499.5:n.607G>T (AP4B1)
NM_001253852.1:c.639G>T (AP4B1)	NP_001240781.1:p.Trp213Cys
NM_001253852.2:c.639G>T (AP4B1)	NP_001240781.1:p.Trp213Cys
NM_001253853.1:c.342G>T (AP4B1)	NP_001240782.1:p.Trp114Cys
NM_001253853.2:c.342G>T (AP4B1)	NP_001240782.1:p.Trp114Cys
NM_001308312.1:c.135G>T (AP4B1)	NP_001295241.1:p.Trp45Cys
NM_006594.3:c.639G>T (AP4B1)	NP_006585.2:p.Trp213Cys
NM_006594.4:c.639G>T (AP4B1)	NP_006585.2:p.Trp213Cys
NR_037864.1:n.876C>A (AP4B1-AS1)
NR_125965.1:n.1044C>A (AP4B1-AS1)
XM_005270381.2:c.639G>T (AP4B1)	XP_005270438.1:p.Trp213Cys
XM_005270382.3:c.639G>T (AP4B1)	XP_005270439.1:p.Trp213Cys
XM_011540523.1:c.414G>T (AP4B1)	XP_011538825.1:p.Trp138Cys
XM_011540524.1:c.414G>T (AP4B1)	XP_011538826.1:p.Trp138Cys
XM_011540525.1:c.360G>T (AP4B1)	XP_011538827.1:p.Trp120Cys
XM_011540527.1:c.21G>T (AP4B1)	XP_011538829.1:p.Trp7Cys
XR_246227.1:n.821G>T (AP4B1)
XR_246228.2:n.821G>T (AP4B1)
XM_011540523.3:c.414G>T (AP4B1)	XP_011538825.1:p.Trp138Cys
XM_011540525.3:c.360G>T (AP4B1)	XP_011538827.1:p.Trp120Cys
XM_017000089.2:c.639G>T (AP4B1)	XP_016855578.1:p.Trp213Cys
XM_017000090.1:c.135G>T (AP4B1)	XP_016855579.1:p.Trp45Cys
XM_017000091.2:c.360G>T (AP4B1)	XP_016855580.1:p.Trp120Cys
XM_017000092.2:c.-606G>T (AP4B1)	XP_016855581.1:n.-606G>T
XM_017000093.2:c.639G>T (AP4B1)	XP_016855582.1:p.Trp213Cys
XM_024452422.1:c.360G>T (AP4B1)	XP_024308190.1:p.Trp120Cys
XM_024452423.1:c.639G>T (AP4B1)	XP_024308191.1:p.Trp213Cys
XM_024452435.1:c.414G>T (AP4B1)	XP_024308203.1:p.Trp138Cys
XM_024452441.1:c.135G>T (AP4B1)	XP_024308209.1:p.Trp45Cys
XR_001736928.2:n.841G>T (AP4B1)
XR_001736930.2:n.841G>T (AP4B1)
XR_002958805.1:n.841G>T (AP4B1)
XR_002958806.1:n.841G>T (AP4B1)
XR_002958807.1:n.721G>T (AP4B1)
NM_001253852.3:c.639G>T (AP4B1) MANE Select	NP_001240781.1:p.Trp213Cys
NM_001253853.3:c.342G>T (AP4B1)	NP_001240782.1:p.Trp114Cys
NM_001308312.2:c.135G>T (AP4B1)	NP_001295241.1:p.Trp45Cys
NM_006594.5:c.639G>T (AP4B1)	NP_006585.2:p.Trp213Cys