Canonical Allele Identifier: CA1016061

Gene: AP4B1 AP4B1-AS1

Linked Data

• ClinVar Variation Id: 520727
• ClinVar RCV Id: RCV000623523 ; RCV001849410 ; RCV002531883
• dbSNP Id: rs149705131
• ExAC: 1:114443858 C / T
• gnomAD v2: 1-114443858-C-T
• gnomAD v4: 1-113901236-C-T
• MyVariant Identifiers: chr1:g.114443858C>T (hg19) ; chr1:g.113901236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113901236C>T , CM000663.2:g.113901236C>T	GRCh38
NC_000001.10:g.114443858C>T , CM000663.1:g.114443858C>T	GRCh37
NC_000001.9:g.114245381C>T	NCBI36
NG_031901.1:g.8884G>A
NG_057565.1:g.1618C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.392G>A (AP4B1)	ENSP00000358577.2:p.Arg131Gln
ENST00000369567.6:c.114-836G>A (AP4B1)	ENSP00000358580.1:n.114-836G>A
ENST00000369571.3:c.617G>A (AP4B1)	ENSP00000358584.3:p.Arg206Gln
ENST00000432415.6:c.114-836G>A (AP4B1)	ENSP00000393622.2:n.114-836G>A
ENST00000460653.2:c.617G>A (AP4B1)	ENSP00000518881.1:p.Arg206Gln
ENST00000484201.6:c.392G>A (AP4B1)	ENSP00000518883.1:p.Arg131Gln
ENST00000489092.6:c.*285G>A (AP4B1)	ENSP00000518884.1:n.*285G>A
ENST00000489499.6:c.469+519G>A (AP4B1)	ENSP00000518882.1:n.469+519G>A
ENST00000713588.1:c.617G>A (AP4B1)	ENSP00000518880.1:p.Arg206Gln
ENST00000713590.1:c.617G>A (AP4B1)	ENSP00000518886.1:p.Arg206Gln
ENST00000369569.6:c.617G>A (AP4B1) MANE Select	ENSP00000358582.1:p.Arg206Gln
ENST00000256658.8:c.617G>A (AP4B1)	ENSP00000256658.4:p.Arg206Gln
ENST00000369564.5:c.392G>A (AP4B1)	ENSP00000358577.1:p.Arg131Gln
ENST00000369567.5:c.114-836G>A (AP4B1)	ENSP00000358580.1:n.114-836G>A
ENST00000369569.5:c.617G>A (AP4B1)	ENSP00000358582.1:p.Arg206Gln
ENST00000369571.2:c.617G>A (AP4B1)	ENSP00000358584.2:p.Arg206Gln
ENST00000432415.5:c.114-836G>A (AP4B1)	ENSP00000393622.1:n.114-836G>A
ENST00000472122.1:n.513G>A (AP4B1)
ENST00000484201.5:n.583G>A (AP4B1)
ENST00000489092.5:n.616G>A (AP4B1)
ENST00000489499.5:n.585+519G>A (AP4B1)
NM_001253852.1:c.617G>A (AP4B1)	NP_001240781.1:p.Arg206Gln
NM_001253852.2:c.617G>A (AP4B1)	NP_001240781.1:p.Arg206Gln
NM_001253853.1:c.320G>A (AP4B1)	NP_001240782.1:p.Arg107Gln
NM_001253853.2:c.320G>A (AP4B1)	NP_001240782.1:p.Arg107Gln
NM_001308312.1:c.114-836G>A (AP4B1)	NP_001295241.1:n.114-836G>A
NM_006594.3:c.617G>A (AP4B1)	NP_006585.2:p.Arg206Gln
NM_006594.4:c.617G>A (AP4B1)	NP_006585.2:p.Arg206Gln
NR_037864.1:n.1733C>T (AP4B1-AS1)
NR_125965.1:n.1901C>T (AP4B1-AS1)
XM_005270381.2:c.617G>A (AP4B1)	XP_005270438.1:p.Arg206Gln
XM_005270382.3:c.617G>A (AP4B1)	XP_005270439.1:p.Arg206Gln
XM_011540523.1:c.392G>A (AP4B1)	XP_011538825.1:p.Arg131Gln
XM_011540524.1:c.392G>A (AP4B1)	XP_011538826.1:p.Arg131Gln
XM_011540525.1:c.339-836G>A (AP4B1)	XP_011538827.1:n.339-836G>A
XM_011540527.1:c.-2+519G>A (AP4B1)	XP_011538829.1:n.-2+519G>A
XR_246227.1:n.799G>A (AP4B1)
XR_246228.2:n.799G>A (AP4B1)
XM_011540523.3:c.392G>A (AP4B1)	XP_011538825.1:p.Arg131Gln
XM_011540525.3:c.339-836G>A (AP4B1)	XP_011538827.1:n.339-836G>A
XM_017000089.2:c.617G>A (AP4B1)	XP_016855578.1:p.Arg206Gln
XM_017000090.1:c.114-836G>A (AP4B1)	XP_016855579.1:n.114-836G>A
XM_017000091.2:c.339-836G>A (AP4B1)	XP_016855580.1:n.339-836G>A
XM_017000092.2:c.-628G>A (AP4B1)	XP_016855581.1:n.-628G>A
XM_017000093.2:c.617G>A (AP4B1)	XP_016855582.1:p.Arg206Gln
XM_024452422.1:c.339-836G>A (AP4B1)	XP_024308190.1:n.339-836G>A
XM_024452423.1:c.617G>A (AP4B1)	XP_024308191.1:p.Arg206Gln
XM_024452435.1:c.392G>A (AP4B1)	XP_024308203.1:p.Arg131Gln
XM_024452441.1:c.114-836G>A (AP4B1)	XP_024308209.1:n.114-836G>A
XR_001736928.2:n.819G>A (AP4B1)
XR_001736930.2:n.819G>A (AP4B1)
XR_002958805.1:n.819G>A (AP4B1)
XR_002958806.1:n.819G>A (AP4B1)
XR_002958807.1:n.699G>A (AP4B1)
NM_001253852.3:c.617G>A (AP4B1) MANE Select	NP_001240781.1:p.Arg206Gln
NM_001253853.3:c.320G>A (AP4B1)	NP_001240782.1:p.Arg107Gln
NM_001308312.2:c.114-836G>A (AP4B1)	NP_001295241.1:n.114-836G>A
NM_006594.5:c.617G>A (AP4B1)	NP_006585.2:p.Arg206Gln