Canonical Allele Identifier: CA1015805

Gene: AP4B1 AP4B1-AS1

Linked Data

• ClinVar Variation Id: 521444
• ClinVar RCV Id: RCV000624560 ; RCV001849414
• dbSNP Id: rs142209254
• ExAC: 1:114439045 T / A
• gnomAD v3: 1-113896423-T-A
• gnomAD v4: 1-113896423-T-A
• MyVariant Identifiers: chr1:g.114439045T>A (hg19) ; chr1:g.113896423T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896423T>A , CM000663.2:g.113896423T>A	GRCh38
NC_000001.10:g.114439045T>A , CM000663.1:g.114439045T>A	GRCh37
NC_000001.9:g.114240568T>A	NCBI36
NG_031901.1:g.13697A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.1120A>T (AP4B1)	ENSP00000358577.2:p.Arg374Ter
ENST00000369567.6:c.841A>T (AP4B1)	ENSP00000358580.1:p.Arg281Ter
ENST00000369571.3:c.1345A>T (AP4B1)	ENSP00000358584.3:p.Arg449Ter
ENST00000432415.6:c.841A>T (AP4B1)	ENSP00000393622.2:p.Arg281Ter
ENST00000460653.2:c.*415A>T (AP4B1)	ENSP00000518881.1:n.*415A>T
ENST00000484201.6:c.*95A>T (AP4B1)	ENSP00000518883.1:n.*95A>T
ENST00000489499.6:c.*687A>T (AP4B1)	ENSP00000518882.1:n.*687A>T
ENST00000713588.1:c.*456A>T (AP4B1)	ENSP00000518880.1:n.*456A>T
ENST00000713590.1:c.1345A>T (AP4B1)	ENSP00000518886.1:p.Arg449Ter
ENST00000369569.6:c.1345A>T (AP4B1) MANE Select	ENSP00000358582.1:p.Arg449Ter
ENST00000256658.8:c.1345A>T (AP4B1)	ENSP00000256658.4:p.Arg449Ter
ENST00000369567.5:c.841A>T (AP4B1)	ENSP00000358580.1:p.Arg281Ter
ENST00000369569.5:c.1345A>T (AP4B1)	ENSP00000358582.1:p.Arg449Ter
ENST00000462591.1:n.1517A>T (AP4B1)
ENST00000479285.5:n.573A>T (AP4B1)
ENST00000479801.1:n.179A>T (AP4B1)
ENST00000484201.5:n.907A>T (AP4B1)
NM_001253852.1:c.1345A>T (AP4B1)	NP_001240781.1:p.Arg449Ter
NM_001253852.2:c.1345A>T (AP4B1)	NP_001240781.1:p.Arg449Ter
NM_001253853.1:c.1048A>T (AP4B1)	NP_001240782.1:p.Arg350Ter
NM_001253853.2:c.1048A>T (AP4B1)	NP_001240782.1:p.Arg350Ter
NM_001308312.1:c.841A>T (AP4B1)	NP_001295241.1:p.Arg281Ter
NM_006594.3:c.1345A>T (AP4B1)	NP_006585.2:p.Arg449Ter
NM_006594.4:c.1345A>T (AP4B1)	NP_006585.2:p.Arg449Ter
NR_037864.1:n.247-1445T>A (AP4B1-AS1)
NR_125965.1:n.415-1445T>A (AP4B1-AS1)
XM_005270381.2:c.1199-385A>T (AP4B1)	XP_005270438.1:n.1199-385A>T
XM_011540523.1:c.1120A>T (AP4B1)	XP_011538825.1:p.Arg374Ter
XM_011540524.1:c.1120A>T (AP4B1)	XP_011538826.1:p.Arg374Ter
XM_011540525.1:c.1066A>T (AP4B1)	XP_011538827.1:p.Arg356Ter
XM_011540527.1:c.727A>T (AP4B1)	XP_011538829.1:p.Arg243Ter
XM_011540528.1:c.370A>T (AP4B1)	XP_011538830.1:p.Arg124Ter
XR_246227.1:n.1485-385A>T (AP4B1)
XM_011540523.3:c.1120A>T (AP4B1)	XP_011538825.1:p.Arg374Ter
XM_011540525.3:c.1066A>T (AP4B1)	XP_011538827.1:p.Arg356Ter
XM_017000089.2:c.1199-385A>T (AP4B1)	XP_016855578.1:n.1199-385A>T
XM_017000090.1:c.841A>T (AP4B1)	XP_016855579.1:p.Arg281Ter
XM_017000091.2:c.920-385A>T (AP4B1)	XP_016855580.1:n.920-385A>T
XM_017000092.2:c.370A>T (AP4B1)	XP_016855581.1:p.Arg124Ter
XM_024452422.1:c.1066A>T (AP4B1)	XP_024308190.1:p.Arg356Ter
XM_024452423.1:c.1199-385A>T (AP4B1)	XP_024308191.1:n.1199-385A>T
XM_024452435.1:c.974-385A>T (AP4B1)	XP_024308203.1:n.974-385A>T
XM_024452441.1:c.695-385A>T (AP4B1)	XP_024308209.1:n.695-385A>T
XR_001736928.2:n.1775A>T (AP4B1)
XR_001736930.2:n.1919A>T (AP4B1)
XR_002958805.1:n.1505-385A>T (AP4B1)
XR_002958806.1:n.1816A>T (AP4B1)
XR_002958807.1:n.1655A>T (AP4B1)
NM_001253852.3:c.1345A>T (AP4B1) MANE Select	NP_001240781.1:p.Arg449Ter
NM_001253853.3:c.1048A>T (AP4B1)	NP_001240782.1:p.Arg350Ter
NM_001308312.2:c.841A>T (AP4B1)	NP_001295241.1:p.Arg281Ter
NM_006594.5:c.1345A>T (AP4B1)	NP_006585.2:p.Arg449Ter