Canonical Allele Identifier: CA341709616

Gene: AP4B1 AP4B1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.114438654T>G (hg19) ; chr1:g.113896032T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896032T>G , CM000663.2:g.113896032T>G	GRCh38
NC_000001.10:g.114438654T>G , CM000663.1:g.114438654T>G	GRCh37
NC_000001.9:g.114240177T>G	NCBI36
NG_031901.1:g.14088A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.1292A>C (AP4B1)	ENSP00000358577.2:p.Glu431Ala
ENST00000369567.6:c.1013A>C (AP4B1)	ENSP00000358580.1:p.Glu338Ala
ENST00000369571.3:c.1517A>C (AP4B1)	ENSP00000358584.3:p.Glu506Ala
ENST00000432415.6:c.1013A>C (AP4B1)	ENSP00000393622.2:p.Glu338Ala
ENST00000460653.2:c.*587A>C (AP4B1)	ENSP00000518881.1:n.*587A>C
ENST00000484201.6:c.*267A>C (AP4B1)	ENSP00000518883.1:n.*267A>C
ENST00000489499.6:c.*859A>C (AP4B1)	ENSP00000518882.1:n.*859A>C
ENST00000713588.1:c.*628A>C (AP4B1)	ENSP00000518880.1:n.*628A>C
ENST00000713590.1:c.1517A>C (AP4B1)	ENSP00000518886.1:p.Glu506Ala
ENST00000369569.6:c.1517A>C (AP4B1) MANE Select	ENSP00000358582.1:p.Glu506Ala
ENST00000256658.8:c.1517A>C (AP4B1)	ENSP00000256658.4:p.Glu506Ala
ENST00000369567.5:c.1013A>C (AP4B1)	ENSP00000358580.1:p.Glu338Ala
ENST00000369569.5:c.1517A>C (AP4B1)	ENSP00000358582.1:p.Glu506Ala
ENST00000462591.1:n.1689A>C (AP4B1)
ENST00000479285.5:n.964A>C (AP4B1)
NM_001253852.1:c.1517A>C (AP4B1)	NP_001240781.1:p.Glu506Ala
NM_001253852.2:c.1517A>C (AP4B1)	NP_001240781.1:p.Glu506Ala
NM_001253853.1:c.1220A>C (AP4B1)	NP_001240782.1:p.Glu407Ala
NM_001253853.2:c.1220A>C (AP4B1)	NP_001240782.1:p.Glu407Ala
NM_001308312.1:c.1013A>C (AP4B1)	NP_001295241.1:p.Glu338Ala
NM_006594.3:c.1517A>C (AP4B1)	NP_006585.2:p.Glu506Ala
NM_006594.4:c.1517A>C (AP4B1)	NP_006585.2:p.Glu506Ala
NR_037864.1:n.247-1836T>G (AP4B1-AS1)
NR_125965.1:n.415-1836T>G (AP4B1-AS1)
XM_005270381.2:c.1205A>C (AP4B1)	XP_005270438.1:p.Glu402Ala
XM_011540523.1:c.1292A>C (AP4B1)	XP_011538825.1:p.Glu431Ala
XM_011540524.1:c.1292A>C (AP4B1)	XP_011538826.1:p.Glu431Ala
XM_011540525.1:c.1238A>C (AP4B1)	XP_011538827.1:p.Glu413Ala
XM_011540527.1:c.899A>C (AP4B1)	XP_011538829.1:p.Glu300Ala
XM_011540528.1:c.542A>C (AP4B1)	XP_011538830.1:p.Glu181Ala
XR_246227.1:n.1491A>C (AP4B1)
XM_011540523.3:c.1292A>C (AP4B1)	XP_011538825.1:p.Glu431Ala
XM_011540525.3:c.1238A>C (AP4B1)	XP_011538827.1:p.Glu413Ala
XM_017000089.2:c.1205A>C (AP4B1)	XP_016855578.1:p.Glu402Ala
XM_017000090.1:c.1013A>C (AP4B1)	XP_016855579.1:p.Glu338Ala
XM_017000091.2:c.926A>C (AP4B1)	XP_016855580.1:p.Glu309Ala
XM_017000092.2:c.542A>C (AP4B1)	XP_016855581.1:p.Glu181Ala
XM_024452422.1:c.1238A>C (AP4B1)	XP_024308190.1:p.Glu413Ala
XM_024452423.1:c.1205A>C (AP4B1)	XP_024308191.1:p.Glu402Ala
XM_024452435.1:c.980A>C (AP4B1)	XP_024308203.1:p.Glu327Ala
XM_024452441.1:c.701A>C (AP4B1)	XP_024308209.1:p.Glu234Ala
XR_001736928.2:n.1947A>C (AP4B1)
XR_001736930.2:n.2091A>C (AP4B1)
XR_002958805.1:n.1511A>C (AP4B1)
XR_002958806.1:n.1988A>C (AP4B1)
XR_002958807.1:n.2046A>C (AP4B1)
NM_001253852.3:c.1517A>C (AP4B1) MANE Select	NP_001240781.1:p.Glu506Ala
NM_001253853.3:c.1220A>C (AP4B1)	NP_001240782.1:p.Glu407Ala
NM_001308312.2:c.1013A>C (AP4B1)	NP_001295241.1:p.Glu338Ala
NM_006594.5:c.1517A>C (AP4B1)	NP_006585.2:p.Glu506Ala