Canonical Allele Identifier: CA1016012

Gene: AP4B1 AP4B1-AS1

Linked Data

• ClinVar Variation Id: 1116541
• ClinVar RCV Id: RCV001444985
• dbSNP Id: rs762267301
• ExAC: 1:114442836 G / A
• gnomAD v2: 1-114442836-G-A
• gnomAD v3: 1-113900214-G-A
• gnomAD v4: 1-113900214-G-A
• MyVariant Identifiers: chr1:g.114442836G>A (hg19) ; chr1:g.113900214G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113900214G>A , CM000663.2:g.113900214G>A	GRCh38
NC_000001.10:g.114442836G>A , CM000663.1:g.114442836G>A	GRCh37
NC_000001.9:g.114244359G>A	NCBI36
NG_031901.1:g.9906C>T
NG_057565.1:g.596G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.579C>T (AP4B1)	ENSP00000358577.2:p.His193=
ENST00000369567.6:c.300C>T (AP4B1)	ENSP00000358580.1:p.His100=
ENST00000369571.3:c.804C>T (AP4B1)	ENSP00000358584.3:p.His268=
ENST00000432415.6:c.300C>T (AP4B1)	ENSP00000393622.2:p.His100=
ENST00000460653.2:c.804C>T (AP4B1)	ENSP00000518881.1:p.His268=
ENST00000484201.6:c.523+56C>T (AP4B1)	ENSP00000518883.1:n.523+56C>T
ENST00000489092.6:c.*472C>T (AP4B1)	ENSP00000518884.1:n.*472C>T
ENST00000489499.6:c.*146C>T (AP4B1)	ENSP00000518882.1:n.*146C>T
ENST00000713588.1:c.804C>T (AP4B1)	ENSP00000518880.1:p.His268=
ENST00000713590.1:c.804C>T (AP4B1)	ENSP00000518886.1:p.His268=
ENST00000369569.6:c.804C>T (AP4B1) MANE Select	ENSP00000358582.1:p.His268=
ENST00000256658.8:c.804C>T (AP4B1)	ENSP00000256658.4:p.His268=
ENST00000369564.5:c.579C>T (AP4B1)	ENSP00000358577.1:p.His193=
ENST00000369567.5:c.300C>T (AP4B1)	ENSP00000358580.1:p.His100=
ENST00000369569.5:c.804C>T (AP4B1)	ENSP00000358582.1:p.His268=
ENST00000432415.5:c.300C>T (AP4B1)	ENSP00000393622.1:p.His100=
ENST00000479285.5:n.32C>T (AP4B1)
ENST00000484201.5:n.714+56C>T (AP4B1)
ENST00000489092.5:n.803C>T (AP4B1)
ENST00000489499.5:n.772C>T (AP4B1)
NM_001253852.1:c.804C>T (AP4B1)	NP_001240781.1:p.His268=
NM_001253852.2:c.804C>T (AP4B1)	NP_001240781.1:p.His268=
NM_001253853.1:c.507C>T (AP4B1)	NP_001240782.1:p.His169=
NM_001253853.2:c.507C>T (AP4B1)	NP_001240782.1:p.His169=
NM_001308312.1:c.300C>T (AP4B1)	NP_001295241.1:p.His100=
NM_006594.3:c.804C>T (AP4B1)	NP_006585.2:p.His268=
NM_006594.4:c.804C>T (AP4B1)	NP_006585.2:p.His268=
NR_037864.1:n.711G>A (AP4B1-AS1)
NR_125965.1:n.879G>A (AP4B1-AS1)
XM_005270381.2:c.804C>T (AP4B1)	XP_005270438.1:p.His268=
XM_005270382.3:c.804C>T (AP4B1)	XP_005270439.1:p.His268=
XM_011540523.1:c.579C>T (AP4B1)	XP_011538825.1:p.His193=
XM_011540524.1:c.579C>T (AP4B1)	XP_011538826.1:p.His193=
XM_011540525.1:c.525C>T (AP4B1)	XP_011538827.1:p.His175=
XM_011540527.1:c.186C>T (AP4B1)	XP_011538829.1:p.His62=
XR_246227.1:n.986C>T (AP4B1)
XR_246228.2:n.986C>T (AP4B1)
XM_011540523.3:c.579C>T (AP4B1)	XP_011538825.1:p.His193=
XM_011540525.3:c.525C>T (AP4B1)	XP_011538827.1:p.His175=
XM_017000089.2:c.804C>T (AP4B1)	XP_016855578.1:p.His268=
XM_017000090.1:c.300C>T (AP4B1)	XP_016855579.1:p.His100=
XM_017000091.2:c.525C>T (AP4B1)	XP_016855580.1:p.His175=
XM_017000092.2:c.-441C>T (AP4B1)	XP_016855581.1:n.-441C>T
XM_017000093.2:c.804C>T (AP4B1)	XP_016855582.1:p.His268=
XM_024452422.1:c.525C>T (AP4B1)	XP_024308190.1:p.His175=
XM_024452423.1:c.804C>T (AP4B1)	XP_024308191.1:p.His268=
XM_024452435.1:c.579C>T (AP4B1)	XP_024308203.1:p.His193=
XM_024452441.1:c.300C>T (AP4B1)	XP_024308209.1:p.His100=
XR_001736928.2:n.1006C>T (AP4B1)
XR_001736930.2:n.1006C>T (AP4B1)
XR_002958805.1:n.1006C>T (AP4B1)
XR_002958806.1:n.1006C>T (AP4B1)
XR_002958807.1:n.886C>T (AP4B1)
NM_001253852.3:c.804C>T (AP4B1) MANE Select	NP_001240781.1:p.His268=
NM_001253853.3:c.507C>T (AP4B1)	NP_001240782.1:p.His169=
NM_001308312.2:c.300C>T (AP4B1)	NP_001295241.1:p.His100=
NM_006594.5:c.804C>T (AP4B1)	NP_006585.2:p.His268=