Canonical Allele Identifier: CA1015986

Gene: AP4B1 AP4B1-AS1

Linked Data

• ClinVar Variation Id: 539528
• ClinVar RCV Id: RCV000649279 ; RCV002311984
• dbSNP Id: rs111785152
• ExAC: 1:114442742 C / A
• gnomAD v2: 1-114442742-C-A
• gnomAD v3: 1-113900120-C-A
• gnomAD v4: 1-113900120-C-A
• MyVariant Identifiers: chr1:g.114442742C>A (hg19) ; chr1:g.113900120C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113900120C>A , CM000663.2:g.113900120C>A	GRCh38
NC_000001.10:g.114442742C>A , CM000663.1:g.114442742C>A	GRCh37
NC_000001.9:g.114244265C>A	NCBI36
NG_031901.1:g.10000G>T
NG_057565.1:g.502C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.673G>T (AP4B1)	ENSP00000358577.2:p.Val225Leu
ENST00000369567.6:c.394G>T (AP4B1)	ENSP00000358580.1:p.Val132Leu
ENST00000369571.3:c.898G>T (AP4B1)	ENSP00000358584.3:p.Val300Leu
ENST00000432415.6:c.394G>T (AP4B1)	ENSP00000393622.2:p.Val132Leu
ENST00000460653.2:c.898G>T (AP4B1)	ENSP00000518881.1:p.Val300Leu
ENST00000484201.6:c.523+150G>T (AP4B1)	ENSP00000518883.1:n.523+150G>T
ENST00000489092.6:c.*566G>T (AP4B1)	ENSP00000518884.1:n.*566G>T
ENST00000489499.6:c.*240G>T (AP4B1)	ENSP00000518882.1:n.*240G>T
ENST00000713588.1:c.898G>T (AP4B1)	ENSP00000518880.1:p.Val300Leu
ENST00000713590.1:c.898G>T (AP4B1)	ENSP00000518886.1:p.Val300Leu
ENST00000369569.6:c.898G>T (AP4B1) MANE Select	ENSP00000358582.1:p.Val300Leu
ENST00000256658.8:c.898G>T (AP4B1)	ENSP00000256658.4:p.Val300Leu
ENST00000369564.5:c.673G>T (AP4B1)	ENSP00000358577.1:p.Val225Leu
ENST00000369567.5:c.394G>T (AP4B1)	ENSP00000358580.1:p.Val132Leu
ENST00000369569.5:c.898G>T (AP4B1)	ENSP00000358582.1:p.Val300Leu
ENST00000432415.5:c.394G>T (AP4B1)	ENSP00000393622.1:p.Val132Leu
ENST00000479285.5:n.126G>T (AP4B1)
ENST00000484201.5:n.714+150G>T (AP4B1)
ENST00000489092.5:n.897G>T (AP4B1)
ENST00000489499.5:n.866G>T (AP4B1)
NM_001253852.1:c.898G>T (AP4B1)	NP_001240781.1:p.Val300Leu
NM_001253852.2:c.898G>T (AP4B1)	NP_001240781.1:p.Val300Leu
NM_001253853.1:c.601G>T (AP4B1)	NP_001240782.1:p.Val201Leu
NM_001253853.2:c.601G>T (AP4B1)	NP_001240782.1:p.Val201Leu
NM_001308312.1:c.394G>T (AP4B1)	NP_001295241.1:p.Val132Leu
NM_006594.3:c.898G>T (AP4B1)	NP_006585.2:p.Val300Leu
NM_006594.4:c.898G>T (AP4B1)	NP_006585.2:p.Val300Leu
NR_037864.1:n.617C>A (AP4B1-AS1)
NR_125965.1:n.785C>A (AP4B1-AS1)
XM_005270381.2:c.898G>T (AP4B1)	XP_005270438.1:p.Val300Leu
XM_005270382.3:c.898G>T (AP4B1)	XP_005270439.1:p.Val300Leu
XM_011540523.1:c.673G>T (AP4B1)	XP_011538825.1:p.Val225Leu
XM_011540524.1:c.673G>T (AP4B1)	XP_011538826.1:p.Val225Leu
XM_011540525.1:c.619G>T (AP4B1)	XP_011538827.1:p.Val207Leu
XM_011540527.1:c.280G>T (AP4B1)	XP_011538829.1:p.Val94Leu
XR_246227.1:n.1080G>T (AP4B1)
XR_246228.2:n.1080G>T (AP4B1)
XM_011540523.3:c.673G>T (AP4B1)	XP_011538825.1:p.Val225Leu
XM_011540525.3:c.619G>T (AP4B1)	XP_011538827.1:p.Val207Leu
XM_017000089.2:c.898G>T (AP4B1)	XP_016855578.1:p.Val300Leu
XM_017000090.1:c.394G>T (AP4B1)	XP_016855579.1:p.Val132Leu
XM_017000091.2:c.619G>T (AP4B1)	XP_016855580.1:p.Val207Leu
XM_017000092.2:c.-347G>T (AP4B1)	XP_016855581.1:n.-347G>T
XM_017000093.2:c.898G>T (AP4B1)	XP_016855582.1:p.Val300Leu
XM_024452422.1:c.619G>T (AP4B1)	XP_024308190.1:p.Val207Leu
XM_024452423.1:c.898G>T (AP4B1)	XP_024308191.1:p.Val300Leu
XM_024452435.1:c.673G>T (AP4B1)	XP_024308203.1:p.Val225Leu
XM_024452441.1:c.394G>T (AP4B1)	XP_024308209.1:p.Val132Leu
XR_001736928.2:n.1100G>T (AP4B1)
XR_001736930.2:n.1100G>T (AP4B1)
XR_002958805.1:n.1100G>T (AP4B1)
XR_002958806.1:n.1100G>T (AP4B1)
XR_002958807.1:n.980G>T (AP4B1)
NM_001253852.3:c.898G>T (AP4B1) MANE Select	NP_001240781.1:p.Val300Leu
NM_001253853.3:c.601G>T (AP4B1)	NP_001240782.1:p.Val201Leu
NM_001308312.2:c.394G>T (AP4B1)	NP_001295241.1:p.Val132Leu
NM_006594.5:c.898G>T (AP4B1)	NP_006585.2:p.Val300Leu