Canonical Allele Identifier: CA341714067

Gene: AP4B1 AP4B1-AS1

Linked Data

• gnomAD v4: 1-113900383-T-C
• MyVariant Identifiers: chr1:g.114443005T>C (hg19) ; chr1:g.113900383T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113900383T>C , CM000663.2:g.113900383T>C	GRCh38
NC_000001.10:g.114443005T>C , CM000663.1:g.114443005T>C	GRCh37
NC_000001.9:g.114244528T>C	NCBI36
NG_031901.1:g.9737A>G
NG_057565.1:g.765T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.410A>G (AP4B1)	ENSP00000358577.2:p.Gln137Arg
ENST00000369567.6:c.131A>G (AP4B1)	ENSP00000358580.1:p.Gln44Arg
ENST00000369571.3:c.635A>G (AP4B1)	ENSP00000358584.3:p.Gln212Arg
ENST00000432415.6:c.131A>G (AP4B1)	ENSP00000393622.2:p.Gln44Arg
ENST00000460653.2:c.635A>G (AP4B1)	ENSP00000518881.1:p.Gln212Arg
ENST00000484201.6:c.410A>G (AP4B1)	ENSP00000518883.1:p.Gln137Arg
ENST00000489092.6:c.*303A>G (AP4B1)	ENSP00000518884.1:n.*303A>G
ENST00000489499.6:c.487A>G (AP4B1)	ENSP00000518882.1:p.Asn163Asp
ENST00000713588.1:c.635A>G (AP4B1)	ENSP00000518880.1:p.Gln212Arg
ENST00000713590.1:c.635A>G (AP4B1)	ENSP00000518886.1:p.Gln212Arg
ENST00000369569.6:c.635A>G (AP4B1) MANE Select	ENSP00000358582.1:p.Gln212Arg
ENST00000256658.8:c.635A>G (AP4B1)	ENSP00000256658.4:p.Gln212Arg
ENST00000369564.5:c.410A>G (AP4B1)	ENSP00000358577.1:p.Gln137Arg
ENST00000369567.5:c.131A>G (AP4B1)	ENSP00000358580.1:p.Gln44Arg
ENST00000369569.5:c.635A>G (AP4B1)	ENSP00000358582.1:p.Gln212Arg
ENST00000369571.2:c.635A>G (AP4B1)	ENSP00000358584.2:p.Gln212Arg
ENST00000432415.5:c.131A>G (AP4B1)	ENSP00000393622.1:p.Gln44Arg
ENST00000472122.1:n.531A>G (AP4B1)
ENST00000484201.5:n.601A>G (AP4B1)
ENST00000489092.5:n.634A>G (AP4B1)
ENST00000489499.5:n.603A>G (AP4B1)
NM_001253852.1:c.635A>G (AP4B1)	NP_001240781.1:p.Gln212Arg
NM_001253852.2:c.635A>G (AP4B1)	NP_001240781.1:p.Gln212Arg
NM_001253853.1:c.338A>G (AP4B1)	NP_001240782.1:p.Gln113Arg
NM_001253853.2:c.338A>G (AP4B1)	NP_001240782.1:p.Gln113Arg
NM_001308312.1:c.131A>G (AP4B1)	NP_001295241.1:p.Gln44Arg
NM_006594.3:c.635A>G (AP4B1)	NP_006585.2:p.Gln212Arg
NM_006594.4:c.635A>G (AP4B1)	NP_006585.2:p.Gln212Arg
NR_037864.1:n.880T>C (AP4B1-AS1)
NR_125965.1:n.1048T>C (AP4B1-AS1)
XM_005270381.2:c.635A>G (AP4B1)	XP_005270438.1:p.Gln212Arg
XM_005270382.3:c.635A>G (AP4B1)	XP_005270439.1:p.Gln212Arg
XM_011540523.1:c.410A>G (AP4B1)	XP_011538825.1:p.Gln137Arg
XM_011540524.1:c.410A>G (AP4B1)	XP_011538826.1:p.Gln137Arg
XM_011540525.1:c.356A>G (AP4B1)	XP_011538827.1:p.Gln119Arg
XM_011540527.1:c.17A>G (AP4B1)	XP_011538829.1:p.Gln6Arg
XR_246227.1:n.817A>G (AP4B1)
XR_246228.2:n.817A>G (AP4B1)
XM_011540523.3:c.410A>G (AP4B1)	XP_011538825.1:p.Gln137Arg
XM_011540525.3:c.356A>G (AP4B1)	XP_011538827.1:p.Gln119Arg
XM_017000089.2:c.635A>G (AP4B1)	XP_016855578.1:p.Gln212Arg
XM_017000090.1:c.131A>G (AP4B1)	XP_016855579.1:p.Gln44Arg
XM_017000091.2:c.356A>G (AP4B1)	XP_016855580.1:p.Gln119Arg
XM_017000092.2:c.-610A>G (AP4B1)	XP_016855581.1:n.-610A>G
XM_017000093.2:c.635A>G (AP4B1)	XP_016855582.1:p.Gln212Arg
XM_024452422.1:c.356A>G (AP4B1)	XP_024308190.1:p.Gln119Arg
XM_024452423.1:c.635A>G (AP4B1)	XP_024308191.1:p.Gln212Arg
XM_024452435.1:c.410A>G (AP4B1)	XP_024308203.1:p.Gln137Arg
XM_024452441.1:c.131A>G (AP4B1)	XP_024308209.1:p.Gln44Arg
XR_001736928.2:n.837A>G (AP4B1)
XR_001736930.2:n.837A>G (AP4B1)
XR_002958805.1:n.837A>G (AP4B1)
XR_002958806.1:n.837A>G (AP4B1)
XR_002958807.1:n.717A>G (AP4B1)
NM_001253852.3:c.635A>G (AP4B1) MANE Select	NP_001240781.1:p.Gln212Arg
NM_001253853.3:c.338A>G (AP4B1)	NP_001240782.1:p.Gln113Arg
NM_001308312.2:c.131A>G (AP4B1)	NP_001295241.1:p.Gln44Arg
NM_006594.5:c.635A>G (AP4B1)	NP_006585.2:p.Gln212Arg