Canonical Allele Identifier: CA419565057

Gene: AP4B1 AP4B1-AS1

Linked Data

• gnomAD v4: 1-113898764-C-T
• MyVariant Identifiers: chr1:g.114441386C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113898764C>T , CM000663.2:g.113898764C>T	GRCh38
NC_000001.10:g.114441386C>T , CM000663.1:g.114441386C>T	GRCh37
NC_000001.9:g.114242909C>T	NCBI36
NG_031901.1:g.11356G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.927G>A (AP4B1)	ENSP00000358577.2:p.Gln309=
ENST00000369567.6:c.648G>A (AP4B1)	ENSP00000358580.1:p.Gln216=
ENST00000369571.3:c.1152G>A (AP4B1)	ENSP00000358584.3:p.Gln384=
ENST00000432415.6:c.648G>A (AP4B1)	ENSP00000393622.2:p.Gln216=
ENST00000460653.2:c.*222G>A (AP4B1)	ENSP00000518881.1:n.*222G>A
ENST00000484201.6:c.524-1G>A (AP4B1)	ENSP00000518883.1:n.524-1G>A
ENST00000489499.6:c.*494G>A (AP4B1)	ENSP00000518882.1:n.*494G>A
ENST00000713588.1:c.*263G>A (AP4B1)	ENSP00000518880.1:n.*263G>A
ENST00000713590.1:c.1152G>A (AP4B1)	ENSP00000518886.1:p.Gln384=
ENST00000369569.6:c.1152G>A (AP4B1) MANE Select	ENSP00000358582.1:p.Gln384=
ENST00000256658.8:c.1152G>A (AP4B1)	ENSP00000256658.4:p.Gln384=
ENST00000369567.5:c.648G>A (AP4B1)	ENSP00000358580.1:p.Gln216=
ENST00000369569.5:c.1152G>A (AP4B1)	ENSP00000358582.1:p.Gln384=
ENST00000479285.5:n.380G>A (AP4B1)
ENST00000484201.5:n.715-1G>A (AP4B1)
NM_001253852.1:c.1152G>A (AP4B1)	NP_001240781.1:p.Gln384=
NM_001253852.2:c.1152G>A (AP4B1)	NP_001240781.1:p.Gln384=
NM_001253853.1:c.855G>A (AP4B1)	NP_001240782.1:p.Gln285=
NM_001253853.2:c.855G>A (AP4B1)	NP_001240782.1:p.Gln285=
NM_001308312.1:c.648G>A (AP4B1)	NP_001295241.1:p.Gln216=
NM_006594.3:c.1152G>A (AP4B1)	NP_006585.2:p.Gln384=
NM_006594.4:c.1152G>A (AP4B1)	NP_006585.2:p.Gln384=
NR_037864.1:n.368+775C>T (AP4B1-AS1)
NR_125965.1:n.536+775C>T (AP4B1-AS1)
XM_005270381.2:c.1152G>A (AP4B1)	XP_005270438.1:p.Gln384=
XM_005270382.3:c.1152G>A (AP4B1)	XP_005270439.1:p.Gln384=
XM_011540523.1:c.927G>A (AP4B1)	XP_011538825.1:p.Gln309=
XM_011540524.1:c.927G>A (AP4B1)	XP_011538826.1:p.Gln309=
XM_011540525.1:c.873G>A (AP4B1)	XP_011538827.1:p.Gln291=
XM_011540527.1:c.534G>A (AP4B1)	XP_011538829.1:p.Gln178=
XM_011540528.1:c.177G>A (AP4B1)	XP_011538830.1:p.Gln59=
XR_246227.1:n.1334G>A (AP4B1)
XR_246228.2:n.1562G>A (AP4B1)
XM_011540523.3:c.927G>A (AP4B1)	XP_011538825.1:p.Gln309=
XM_011540525.3:c.873G>A (AP4B1)	XP_011538827.1:p.Gln291=
XM_017000089.2:c.1152G>A (AP4B1)	XP_016855578.1:p.Gln384=
XM_017000090.1:c.648G>A (AP4B1)	XP_016855579.1:p.Gln216=
XM_017000091.2:c.873G>A (AP4B1)	XP_016855580.1:p.Gln291=
XM_017000092.2:c.177G>A (AP4B1)	XP_016855581.1:p.Gln59=
XM_017000093.2:c.1152G>A (AP4B1)	XP_016855582.1:p.Gln384=
XM_024452422.1:c.873G>A (AP4B1)	XP_024308190.1:p.Gln291=
XM_024452423.1:c.1152G>A (AP4B1)	XP_024308191.1:p.Gln384=
XM_024452435.1:c.927G>A (AP4B1)	XP_024308203.1:p.Gln309=
XM_024452441.1:c.648G>A (AP4B1)	XP_024308209.1:p.Gln216=
XR_001736928.2:n.1582G>A (AP4B1)
XR_001736930.2:n.1623G>A (AP4B1)
XR_002958805.1:n.1354G>A (AP4B1)
XR_002958806.1:n.1623G>A (AP4B1)
XR_002958807.1:n.1462G>A (AP4B1)
NM_001253852.3:c.1152G>A (AP4B1) MANE Select	NP_001240781.1:p.Gln384=
NM_001253853.3:c.855G>A (AP4B1)	NP_001240782.1:p.Gln285=
NM_001308312.2:c.648G>A (AP4B1)	NP_001295241.1:p.Gln216=
NM_006594.5:c.1152G>A (AP4B1)	NP_006585.2:p.Gln384=