Canonical Allele Identifier: CA341712808

Gene: AP4B1 AP4B1-AS1

Linked Data

• ClinVar Variation Id: 1344776
• ClinVar RCV Id: RCV001849777
• dbSNP Id: rs2101024858
• gnomAD v4: 1-113900027-G-A
• MyVariant Identifiers: chr1:g.114442649G>A (hg19) ; chr1:g.113900027G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113900027G>A , CM000663.2:g.113900027G>A	GRCh38
NC_000001.10:g.114442649G>A , CM000663.1:g.114442649G>A	GRCh37
NC_000001.9:g.114244172G>A	NCBI36
NG_031901.1:g.10093C>T
NG_057565.1:g.409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.766C>T (AP4B1)	ENSP00000358577.2:p.Gln256Ter
ENST00000369567.6:c.487C>T (AP4B1)	ENSP00000358580.1:p.Gln163Ter
ENST00000369571.3:c.991C>T (AP4B1)	ENSP00000358584.3:p.Gln331Ter
ENST00000432415.6:c.487C>T (AP4B1)	ENSP00000393622.2:p.Gln163Ter
ENST00000460653.2:c.991C>T (AP4B1)	ENSP00000518881.1:p.Gln331Ter
ENST00000484201.6:c.523+243C>T (AP4B1)	ENSP00000518883.1:n.523+243C>T
ENST00000489499.6:c.*333C>T (AP4B1)	ENSP00000518882.1:n.*333C>T
ENST00000713588.1:c.991C>T (AP4B1)	ENSP00000518880.1:p.Gln331Ter
ENST00000713590.1:c.991C>T (AP4B1)	ENSP00000518886.1:p.Gln331Ter
ENST00000369569.6:c.991C>T (AP4B1) MANE Select	ENSP00000358582.1:p.Gln331Ter
ENST00000256658.8:c.991C>T (AP4B1)	ENSP00000256658.4:p.Gln331Ter
ENST00000369564.5:c.766C>T (AP4B1)	ENSP00000358577.1:p.Gln256Ter
ENST00000369567.5:c.487C>T (AP4B1)	ENSP00000358580.1:p.Gln163Ter
ENST00000369569.5:c.991C>T (AP4B1)	ENSP00000358582.1:p.Gln331Ter
ENST00000432415.5:c.487C>T (AP4B1)	ENSP00000393622.1:p.Gln163Ter
ENST00000479285.5:n.219C>T (AP4B1)
ENST00000484201.5:n.714+243C>T (AP4B1)
ENST00000489499.5:n.959C>T (AP4B1)
NM_001253852.1:c.991C>T (AP4B1)	NP_001240781.1:p.Gln331Ter
NM_001253852.2:c.991C>T (AP4B1)	NP_001240781.1:p.Gln331Ter
NM_001253853.1:c.694C>T (AP4B1)	NP_001240782.1:p.Gln232Ter
NM_001253853.2:c.694C>T (AP4B1)	NP_001240782.1:p.Gln232Ter
NM_001308312.1:c.487C>T (AP4B1)	NP_001295241.1:p.Gln163Ter
NM_006594.3:c.991C>T (AP4B1)	NP_006585.2:p.Gln331Ter
NM_006594.4:c.991C>T (AP4B1)	NP_006585.2:p.Gln331Ter
NR_037864.1:n.524G>A (AP4B1-AS1)
NR_125965.1:n.692G>A (AP4B1-AS1)
XM_005270381.2:c.991C>T (AP4B1)	XP_005270438.1:p.Gln331Ter
XM_005270382.3:c.991C>T (AP4B1)	XP_005270439.1:p.Gln331Ter
XM_011540523.1:c.766C>T (AP4B1)	XP_011538825.1:p.Gln256Ter
XM_011540524.1:c.766C>T (AP4B1)	XP_011538826.1:p.Gln256Ter
XM_011540525.1:c.712C>T (AP4B1)	XP_011538827.1:p.Gln238Ter
XM_011540527.1:c.373C>T (AP4B1)	XP_011538829.1:p.Gln125Ter
XR_246227.1:n.1173C>T (AP4B1)
XR_246228.2:n.1173C>T (AP4B1)
XM_011540523.3:c.766C>T (AP4B1)	XP_011538825.1:p.Gln256Ter
XM_011540525.3:c.712C>T (AP4B1)	XP_011538827.1:p.Gln238Ter
XM_017000089.2:c.991C>T (AP4B1)	XP_016855578.1:p.Gln331Ter
XM_017000090.1:c.487C>T (AP4B1)	XP_016855579.1:p.Gln163Ter
XM_017000091.2:c.712C>T (AP4B1)	XP_016855580.1:p.Gln238Ter
XM_017000092.2:c.-254C>T (AP4B1)	XP_016855581.1:n.-254C>T
XM_017000093.2:c.991C>T (AP4B1)	XP_016855582.1:p.Gln331Ter
XM_024452422.1:c.712C>T (AP4B1)	XP_024308190.1:p.Gln238Ter
XM_024452423.1:c.991C>T (AP4B1)	XP_024308191.1:p.Gln331Ter
XM_024452435.1:c.766C>T (AP4B1)	XP_024308203.1:p.Gln256Ter
XM_024452441.1:c.487C>T (AP4B1)	XP_024308209.1:p.Gln163Ter
XR_001736928.2:n.1193C>T (AP4B1)
XR_001736930.2:n.1193C>T (AP4B1)
XR_002958805.1:n.1193C>T (AP4B1)
XR_002958806.1:n.1193C>T (AP4B1)
XR_002958807.1:n.1073C>T (AP4B1)
NM_001253852.3:c.991C>T (AP4B1) MANE Select	NP_001240781.1:p.Gln331Ter
NM_001253853.3:c.694C>T (AP4B1)	NP_001240782.1:p.Gln232Ter
NM_001308312.2:c.487C>T (AP4B1)	NP_001295241.1:p.Gln163Ter
NM_006594.5:c.991C>T (AP4B1)	NP_006585.2:p.Gln331Ter