Canonical Allele Identifier: CA341713260

Gene: AP4B1 AP4B1-AS1

Linked Data

• dbSNP Id: rs2101026311
• gnomAD v3: 1-113900156-C-G
• gnomAD v4: 1-113900156-C-G
• MyVariant Identifiers: chr1:g.114442778C>G (hg19) ; chr1:g.113900156C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113900156C>G , CM000663.2:g.113900156C>G	GRCh38
NC_000001.10:g.114442778C>G , CM000663.1:g.114442778C>G	GRCh37
NC_000001.9:g.114244301C>G	NCBI36
NG_031901.1:g.9964G>C
NG_057565.1:g.538C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.637G>C (AP4B1)	ENSP00000358577.2:p.Glu213Gln
ENST00000369567.6:c.358G>C (AP4B1)	ENSP00000358580.1:p.Glu120Gln
ENST00000369571.3:c.862G>C (AP4B1)	ENSP00000358584.3:p.Glu288Gln
ENST00000432415.6:c.358G>C (AP4B1)	ENSP00000393622.2:p.Glu120Gln
ENST00000460653.2:c.862G>C (AP4B1)	ENSP00000518881.1:p.Glu288Gln
ENST00000484201.6:c.523+114G>C (AP4B1)	ENSP00000518883.1:n.523+114G>C
ENST00000489092.6:c.*530G>C (AP4B1)	ENSP00000518884.1:n.*530G>C
ENST00000489499.6:c.*204G>C (AP4B1)	ENSP00000518882.1:n.*204G>C
ENST00000713588.1:c.862G>C (AP4B1)	ENSP00000518880.1:p.Glu288Gln
ENST00000713590.1:c.862G>C (AP4B1)	ENSP00000518886.1:p.Glu288Gln
ENST00000369569.6:c.862G>C (AP4B1) MANE Select	ENSP00000358582.1:p.Glu288Gln
ENST00000256658.8:c.862G>C (AP4B1)	ENSP00000256658.4:p.Glu288Gln
ENST00000369564.5:c.637G>C (AP4B1)	ENSP00000358577.1:p.Glu213Gln
ENST00000369567.5:c.358G>C (AP4B1)	ENSP00000358580.1:p.Glu120Gln
ENST00000369569.5:c.862G>C (AP4B1)	ENSP00000358582.1:p.Glu288Gln
ENST00000432415.5:c.358G>C (AP4B1)	ENSP00000393622.1:p.Glu120Gln
ENST00000479285.5:n.90G>C (AP4B1)
ENST00000484201.5:n.714+114G>C (AP4B1)
ENST00000489092.5:n.861G>C (AP4B1)
ENST00000489499.5:n.830G>C (AP4B1)
NM_001253852.1:c.862G>C (AP4B1)	NP_001240781.1:p.Glu288Gln
NM_001253852.2:c.862G>C (AP4B1)	NP_001240781.1:p.Glu288Gln
NM_001253853.1:c.565G>C (AP4B1)	NP_001240782.1:p.Glu189Gln
NM_001253853.2:c.565G>C (AP4B1)	NP_001240782.1:p.Glu189Gln
NM_001308312.1:c.358G>C (AP4B1)	NP_001295241.1:p.Glu120Gln
NM_006594.3:c.862G>C (AP4B1)	NP_006585.2:p.Glu288Gln
NM_006594.4:c.862G>C (AP4B1)	NP_006585.2:p.Glu288Gln
NR_037864.1:n.653C>G (AP4B1-AS1)
NR_125965.1:n.821C>G (AP4B1-AS1)
XM_005270381.2:c.862G>C (AP4B1)	XP_005270438.1:p.Glu288Gln
XM_005270382.3:c.862G>C (AP4B1)	XP_005270439.1:p.Glu288Gln
XM_011540523.1:c.637G>C (AP4B1)	XP_011538825.1:p.Glu213Gln
XM_011540524.1:c.637G>C (AP4B1)	XP_011538826.1:p.Glu213Gln
XM_011540525.1:c.583G>C (AP4B1)	XP_011538827.1:p.Glu195Gln
XM_011540527.1:c.244G>C (AP4B1)	XP_011538829.1:p.Glu82Gln
XR_246227.1:n.1044G>C (AP4B1)
XR_246228.2:n.1044G>C (AP4B1)
XM_011540523.3:c.637G>C (AP4B1)	XP_011538825.1:p.Glu213Gln
XM_011540525.3:c.583G>C (AP4B1)	XP_011538827.1:p.Glu195Gln
XM_017000089.2:c.862G>C (AP4B1)	XP_016855578.1:p.Glu288Gln
XM_017000090.1:c.358G>C (AP4B1)	XP_016855579.1:p.Glu120Gln
XM_017000091.2:c.583G>C (AP4B1)	XP_016855580.1:p.Glu195Gln
XM_017000092.2:c.-383G>C (AP4B1)	XP_016855581.1:n.-383G>C
XM_017000093.2:c.862G>C (AP4B1)	XP_016855582.1:p.Glu288Gln
XM_024452422.1:c.583G>C (AP4B1)	XP_024308190.1:p.Glu195Gln
XM_024452423.1:c.862G>C (AP4B1)	XP_024308191.1:p.Glu288Gln
XM_024452435.1:c.637G>C (AP4B1)	XP_024308203.1:p.Glu213Gln
XM_024452441.1:c.358G>C (AP4B1)	XP_024308209.1:p.Glu120Gln
XR_001736928.2:n.1064G>C (AP4B1)
XR_001736930.2:n.1064G>C (AP4B1)
XR_002958805.1:n.1064G>C (AP4B1)
XR_002958806.1:n.1064G>C (AP4B1)
XR_002958807.1:n.944G>C (AP4B1)
NM_001253852.3:c.862G>C (AP4B1) MANE Select	NP_001240781.1:p.Glu288Gln
NM_001253853.3:c.565G>C (AP4B1)	NP_001240782.1:p.Glu189Gln
NM_001308312.2:c.358G>C (AP4B1)	NP_001295241.1:p.Glu120Gln
NM_006594.5:c.862G>C (AP4B1)	NP_006585.2:p.Glu288Gln