Canonical Allele Identifier: CA341710585

Gene: AP4B1 AP4B1-AS1

Linked Data

• dbSNP Id: rs777418767
• gnomAD v4: 1-113896438-C-G
• MyVariant Identifiers: chr1:g.114439060C>G (hg19) ; chr1:g.113896438C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896438C>G , CM000663.2:g.113896438C>G	GRCh38
NC_000001.10:g.114439060C>G , CM000663.1:g.114439060C>G	GRCh37
NC_000001.9:g.114240583C>G	NCBI36
NG_031901.1:g.13682G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.1105G>C (AP4B1)	ENSP00000358577.2:p.Gly369Arg
ENST00000369567.6:c.826G>C (AP4B1)	ENSP00000358580.1:p.Gly276Arg
ENST00000369571.3:c.1330G>C (AP4B1)	ENSP00000358584.3:p.Gly444Arg
ENST00000432415.6:c.826G>C (AP4B1)	ENSP00000393622.2:p.Gly276Arg
ENST00000460653.2:c.*400G>C (AP4B1)	ENSP00000518881.1:n.*400G>C
ENST00000484201.6:c.*80G>C (AP4B1)	ENSP00000518883.1:n.*80G>C
ENST00000489499.6:c.*672G>C (AP4B1)	ENSP00000518882.1:n.*672G>C
ENST00000713588.1:c.*441G>C (AP4B1)	ENSP00000518880.1:n.*441G>C
ENST00000713590.1:c.1330G>C (AP4B1)	ENSP00000518886.1:p.Gly444Arg
ENST00000369569.6:c.1330G>C (AP4B1) MANE Select	ENSP00000358582.1:p.Gly444Arg
ENST00000256658.8:c.1330G>C (AP4B1)	ENSP00000256658.4:p.Gly444Arg
ENST00000369567.5:c.826G>C (AP4B1)	ENSP00000358580.1:p.Gly276Arg
ENST00000369569.5:c.1330G>C (AP4B1)	ENSP00000358582.1:p.Gly444Arg
ENST00000462591.1:n.1502G>C (AP4B1)
ENST00000479285.5:n.558G>C (AP4B1)
ENST00000479801.1:n.164G>C (AP4B1)
ENST00000484201.5:n.892G>C (AP4B1)
NM_001253852.1:c.1330G>C (AP4B1)	NP_001240781.1:p.Gly444Arg
NM_001253852.2:c.1330G>C (AP4B1)	NP_001240781.1:p.Gly444Arg
NM_001253853.1:c.1033G>C (AP4B1)	NP_001240782.1:p.Gly345Arg
NM_001253853.2:c.1033G>C (AP4B1)	NP_001240782.1:p.Gly345Arg
NM_001308312.1:c.826G>C (AP4B1)	NP_001295241.1:p.Gly276Arg
NM_006594.3:c.1330G>C (AP4B1)	NP_006585.2:p.Gly444Arg
NM_006594.4:c.1330G>C (AP4B1)	NP_006585.2:p.Gly444Arg
NR_037864.1:n.247-1430C>G (AP4B1-AS1)
NR_125965.1:n.415-1430C>G (AP4B1-AS1)
XM_005270381.2:c.1199-400G>C (AP4B1)	XP_005270438.1:n.1199-400G>C
XM_011540523.1:c.1105G>C (AP4B1)	XP_011538825.1:p.Gly369Arg
XM_011540524.1:c.1105G>C (AP4B1)	XP_011538826.1:p.Gly369Arg
XM_011540525.1:c.1051G>C (AP4B1)	XP_011538827.1:p.Gly351Arg
XM_011540527.1:c.712G>C (AP4B1)	XP_011538829.1:p.Gly238Arg
XM_011540528.1:c.355G>C (AP4B1)	XP_011538830.1:p.Gly119Arg
XR_246227.1:n.1485-400G>C (AP4B1)
XM_011540523.3:c.1105G>C (AP4B1)	XP_011538825.1:p.Gly369Arg
XM_011540525.3:c.1051G>C (AP4B1)	XP_011538827.1:p.Gly351Arg
XM_017000089.2:c.1199-400G>C (AP4B1)	XP_016855578.1:n.1199-400G>C
XM_017000090.1:c.826G>C (AP4B1)	XP_016855579.1:p.Gly276Arg
XM_017000091.2:c.920-400G>C (AP4B1)	XP_016855580.1:n.920-400G>C
XM_017000092.2:c.355G>C (AP4B1)	XP_016855581.1:p.Gly119Arg
XM_024452422.1:c.1051G>C (AP4B1)	XP_024308190.1:p.Gly351Arg
XM_024452423.1:c.1199-400G>C (AP4B1)	XP_024308191.1:n.1199-400G>C
XM_024452435.1:c.974-400G>C (AP4B1)	XP_024308203.1:n.974-400G>C
XM_024452441.1:c.695-400G>C (AP4B1)	XP_024308209.1:n.695-400G>C
XR_001736928.2:n.1760G>C (AP4B1)
XR_001736930.2:n.1904G>C (AP4B1)
XR_002958805.1:n.1505-400G>C (AP4B1)
XR_002958806.1:n.1801G>C (AP4B1)
XR_002958807.1:n.1640G>C (AP4B1)
NM_001253852.3:c.1330G>C (AP4B1) MANE Select	NP_001240781.1:p.Gly444Arg
NM_001253853.3:c.1033G>C (AP4B1)	NP_001240782.1:p.Gly345Arg
NM_001308312.2:c.826G>C (AP4B1)	NP_001295241.1:p.Gly276Arg
NM_006594.5:c.1330G>C (AP4B1)	NP_006585.2:p.Gly444Arg