Canonical Allele Identifier: CA341709593

Gene: AP4B1 AP4B1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.114438651T>A (hg19) ; chr1:g.113896029T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896029T>A , CM000663.2:g.113896029T>A	GRCh38
NC_000001.10:g.114438651T>A , CM000663.1:g.114438651T>A	GRCh37
NC_000001.9:g.114240174T>A	NCBI36
NG_031901.1:g.14091A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.1295A>T (AP4B1)	ENSP00000358577.2:p.Lys432Ile
ENST00000369567.6:c.1016A>T (AP4B1)	ENSP00000358580.1:p.Lys339Ile
ENST00000369571.3:c.1520A>T (AP4B1)	ENSP00000358584.3:p.Lys507Ile
ENST00000432415.6:c.1016A>T (AP4B1)	ENSP00000393622.2:p.Lys339Ile
ENST00000460653.2:c.*590A>T (AP4B1)	ENSP00000518881.1:n.*590A>T
ENST00000484201.6:c.*270A>T (AP4B1)	ENSP00000518883.1:n.*270A>T
ENST00000489499.6:c.*862A>T (AP4B1)	ENSP00000518882.1:n.*862A>T
ENST00000713588.1:c.*631A>T (AP4B1)	ENSP00000518880.1:n.*631A>T
ENST00000713590.1:c.1520A>T (AP4B1)	ENSP00000518886.1:p.Lys507Ile
ENST00000369569.6:c.1520A>T (AP4B1) MANE Select	ENSP00000358582.1:p.Lys507Ile
ENST00000256658.8:c.1520A>T (AP4B1)	ENSP00000256658.4:p.Lys507Ile
ENST00000369567.5:c.1016A>T (AP4B1)	ENSP00000358580.1:p.Lys339Ile
ENST00000369569.5:c.1520A>T (AP4B1)	ENSP00000358582.1:p.Lys507Ile
ENST00000462591.1:n.1692A>T (AP4B1)
ENST00000479285.5:n.967A>T (AP4B1)
NM_001253852.1:c.1520A>T (AP4B1)	NP_001240781.1:p.Lys507Ile
NM_001253852.2:c.1520A>T (AP4B1)	NP_001240781.1:p.Lys507Ile
NM_001253853.1:c.1223A>T (AP4B1)	NP_001240782.1:p.Lys408Ile
NM_001253853.2:c.1223A>T (AP4B1)	NP_001240782.1:p.Lys408Ile
NM_001308312.1:c.1016A>T (AP4B1)	NP_001295241.1:p.Lys339Ile
NM_006594.3:c.1520A>T (AP4B1)	NP_006585.2:p.Lys507Ile
NM_006594.4:c.1520A>T (AP4B1)	NP_006585.2:p.Lys507Ile
NR_037864.1:n.247-1839T>A (AP4B1-AS1)
NR_125965.1:n.415-1839T>A (AP4B1-AS1)
XM_005270381.2:c.1208A>T (AP4B1)	XP_005270438.1:p.Lys403Ile
XM_011540523.1:c.1295A>T (AP4B1)	XP_011538825.1:p.Lys432Ile
XM_011540524.1:c.1295A>T (AP4B1)	XP_011538826.1:p.Lys432Ile
XM_011540525.1:c.1241A>T (AP4B1)	XP_011538827.1:p.Lys414Ile
XM_011540527.1:c.902A>T (AP4B1)	XP_011538829.1:p.Lys301Ile
XM_011540528.1:c.545A>T (AP4B1)	XP_011538830.1:p.Lys182Ile
XR_246227.1:n.1494A>T (AP4B1)
XM_011540523.3:c.1295A>T (AP4B1)	XP_011538825.1:p.Lys432Ile
XM_011540525.3:c.1241A>T (AP4B1)	XP_011538827.1:p.Lys414Ile
XM_017000089.2:c.1208A>T (AP4B1)	XP_016855578.1:p.Lys403Ile
XM_017000090.1:c.1016A>T (AP4B1)	XP_016855579.1:p.Lys339Ile
XM_017000091.2:c.929A>T (AP4B1)	XP_016855580.1:p.Lys310Ile
XM_017000092.2:c.545A>T (AP4B1)	XP_016855581.1:p.Lys182Ile
XM_024452422.1:c.1241A>T (AP4B1)	XP_024308190.1:p.Lys414Ile
XM_024452423.1:c.1208A>T (AP4B1)	XP_024308191.1:p.Lys403Ile
XM_024452435.1:c.983A>T (AP4B1)	XP_024308203.1:p.Lys328Ile
XM_024452441.1:c.704A>T (AP4B1)	XP_024308209.1:p.Lys235Ile
XR_001736928.2:n.1950A>T (AP4B1)
XR_001736930.2:n.2094A>T (AP4B1)
XR_002958805.1:n.1514A>T (AP4B1)
XR_002958806.1:n.1991A>T (AP4B1)
XR_002958807.1:n.2049A>T (AP4B1)
NM_001253852.3:c.1520A>T (AP4B1) MANE Select	NP_001240781.1:p.Lys507Ile
NM_001253853.3:c.1223A>T (AP4B1)	NP_001240782.1:p.Lys408Ile
NM_001308312.2:c.1016A>T (AP4B1)	NP_001295241.1:p.Lys339Ile
NM_006594.5:c.1520A>T (AP4B1)	NP_006585.2:p.Lys507Ile