Canonical Allele Identifier: CA2647214663

Gene: AP4B1 AP4B1-AS1

Linked Data

• gnomAD v4: 1-113898622-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113898622C>T , CM000663.2:g.113898622C>T	GRCh38
NC_000001.10:g.114441244C>T , CM000663.1:g.114441244C>T	GRCh37
NC_000001.9:g.114242767C>T	NCBI36
NG_031901.1:g.11498G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.973+96G>A (AP4B1)	ENSP00000358577.2:n.973+96G>A
ENST00000369567.6:c.694+96G>A (AP4B1)	ENSP00000358580.1:n.694+96G>A
ENST00000369571.3:c.1198+96G>A (AP4B1)	ENSP00000358584.3:n.1198+96G>A
ENST00000432415.6:c.694+96G>A (AP4B1)	ENSP00000393622.2:n.694+96G>A
ENST00000460653.2:c.*268+96G>A (AP4B1)	ENSP00000518881.1:n.*268+96G>A
ENST00000484201.6:c.569+96G>A (AP4B1)	ENSP00000518883.1:n.569+96G>A
ENST00000489499.6:c.*540+96G>A (AP4B1)	ENSP00000518882.1:n.*540+96G>A
ENST00000713588.1:c.*309+96G>A (AP4B1)	ENSP00000518880.1:n.*309+96G>A
ENST00000713590.1:c.1198+96G>A (AP4B1)	ENSP00000518886.1:n.1198+96G>A
ENST00000369569.6:c.1198+96G>A (AP4B1) MANE Select	ENSP00000358582.1:n.1198+96G>A
ENST00000256658.8:c.1198+96G>A (AP4B1)	ENSP00000256658.4:n.1198+96G>A
ENST00000369567.5:c.694+96G>A (AP4B1)	ENSP00000358580.1:n.694+96G>A
ENST00000369569.5:c.1198+96G>A (AP4B1)	ENSP00000358582.1:n.1198+96G>A
ENST00000479285.5:n.426+96G>A (AP4B1)
ENST00000484201.5:n.760+96G>A (AP4B1)
NM_001253852.1:c.1198+96G>A (AP4B1)	NP_001240781.1:n.1198+96G>A
NM_001253852.2:c.1198+96G>A (AP4B1)	NP_001240781.1:n.1198+96G>A
NM_001253853.1:c.901+96G>A (AP4B1)	NP_001240782.1:n.901+96G>A
NM_001253853.2:c.901+96G>A (AP4B1)	NP_001240782.1:n.901+96G>A
NM_001308312.1:c.694+96G>A (AP4B1)	NP_001295241.1:n.694+96G>A
NM_006594.3:c.1198+96G>A (AP4B1)	NP_006585.2:n.1198+96G>A
NM_006594.4:c.1198+96G>A (AP4B1)	NP_006585.2:n.1198+96G>A
NR_037864.1:n.368+633C>T (AP4B1-AS1)
NR_125965.1:n.536+633C>T (AP4B1-AS1)
XM_005270381.2:c.1198+96G>A (AP4B1)	XP_005270438.1:n.1198+96G>A
XM_005270382.3:c.1198+96G>A (AP4B1)	XP_005270439.1:n.1198+96G>A
XM_011540523.1:c.973+96G>A (AP4B1)	XP_011538825.1:n.973+96G>A
XM_011540524.1:c.973+96G>A (AP4B1)	XP_011538826.1:n.973+96G>A
XM_011540525.1:c.919+96G>A (AP4B1)	XP_011538827.1:n.919+96G>A
XM_011540527.1:c.580+96G>A (AP4B1)	XP_011538829.1:n.580+96G>A
XM_011540528.1:c.223+96G>A (AP4B1)	XP_011538830.1:n.223+96G>A
XR_246227.1:n.1380+96G>A (AP4B1)
XM_011540523.3:c.973+96G>A (AP4B1)	XP_011538825.1:n.973+96G>A
XM_011540525.3:c.919+96G>A (AP4B1)	XP_011538827.1:n.919+96G>A
XM_017000089.2:c.1198+96G>A (AP4B1)	XP_016855578.1:n.1198+96G>A
XM_017000090.1:c.694+96G>A (AP4B1)	XP_016855579.1:n.694+96G>A
XM_017000091.2:c.919+96G>A (AP4B1)	XP_016855580.1:n.919+96G>A
XM_017000092.2:c.223+96G>A (AP4B1)	XP_016855581.1:n.223+96G>A
XM_017000093.2:c.1198+96G>A (AP4B1)	XP_016855582.1:n.1198+96G>A
XM_024452422.1:c.919+96G>A (AP4B1)	XP_024308190.1:n.919+96G>A
XM_024452423.1:c.1198+96G>A (AP4B1)	XP_024308191.1:n.1198+96G>A
XM_024452435.1:c.973+96G>A (AP4B1)	XP_024308203.1:n.973+96G>A
XM_024452441.1:c.694+96G>A (AP4B1)	XP_024308209.1:n.694+96G>A
XR_001736928.2:n.1628+96G>A (AP4B1)
XR_001736930.2:n.1669+96G>A (AP4B1)
XR_002958805.1:n.1400+96G>A (AP4B1)
XR_002958806.1:n.1669+96G>A (AP4B1)
XR_002958807.1:n.1508+96G>A (AP4B1)
NM_001253852.3:c.1198+96G>A (AP4B1) MANE Select	NP_001240781.1:n.1198+96G>A
NM_001253853.3:c.901+96G>A (AP4B1)	NP_001240782.1:n.901+96G>A
NM_001308312.2:c.694+96G>A (AP4B1)	NP_001295241.1:n.694+96G>A
NM_006594.5:c.1198+96G>A (AP4B1)	NP_006585.2:n.1198+96G>A