Canonical Allele Identifier: CA341709604

Gene: AP4B1 AP4B1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.114438652T>G (hg19) ; chr1:g.113896030T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896030T>G , CM000663.2:g.113896030T>G	GRCh38
NC_000001.10:g.114438652T>G , CM000663.1:g.114438652T>G	GRCh37
NC_000001.9:g.114240175T>G	NCBI36
NG_031901.1:g.14090A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.1294A>C (AP4B1)	ENSP00000358577.2:p.Lys432Gln
ENST00000369567.6:c.1015A>C (AP4B1)	ENSP00000358580.1:p.Lys339Gln
ENST00000369571.3:c.1519A>C (AP4B1)	ENSP00000358584.3:p.Lys507Gln
ENST00000432415.6:c.1015A>C (AP4B1)	ENSP00000393622.2:p.Lys339Gln
ENST00000460653.2:c.*589A>C (AP4B1)	ENSP00000518881.1:n.*589A>C
ENST00000484201.6:c.*269A>C (AP4B1)	ENSP00000518883.1:n.*269A>C
ENST00000489499.6:c.*861A>C (AP4B1)	ENSP00000518882.1:n.*861A>C
ENST00000713588.1:c.*630A>C (AP4B1)	ENSP00000518880.1:n.*630A>C
ENST00000713590.1:c.1519A>C (AP4B1)	ENSP00000518886.1:p.Lys507Gln
ENST00000369569.6:c.1519A>C (AP4B1) MANE Select	ENSP00000358582.1:p.Lys507Gln
ENST00000256658.8:c.1519A>C (AP4B1)	ENSP00000256658.4:p.Lys507Gln
ENST00000369567.5:c.1015A>C (AP4B1)	ENSP00000358580.1:p.Lys339Gln
ENST00000369569.5:c.1519A>C (AP4B1)	ENSP00000358582.1:p.Lys507Gln
ENST00000462591.1:n.1691A>C (AP4B1)
ENST00000479285.5:n.966A>C (AP4B1)
NM_001253852.1:c.1519A>C (AP4B1)	NP_001240781.1:p.Lys507Gln
NM_001253852.2:c.1519A>C (AP4B1)	NP_001240781.1:p.Lys507Gln
NM_001253853.1:c.1222A>C (AP4B1)	NP_001240782.1:p.Lys408Gln
NM_001253853.2:c.1222A>C (AP4B1)	NP_001240782.1:p.Lys408Gln
NM_001308312.1:c.1015A>C (AP4B1)	NP_001295241.1:p.Lys339Gln
NM_006594.3:c.1519A>C (AP4B1)	NP_006585.2:p.Lys507Gln
NM_006594.4:c.1519A>C (AP4B1)	NP_006585.2:p.Lys507Gln
NR_037864.1:n.247-1838T>G (AP4B1-AS1)
NR_125965.1:n.415-1838T>G (AP4B1-AS1)
XM_005270381.2:c.1207A>C (AP4B1)	XP_005270438.1:p.Lys403Gln
XM_011540523.1:c.1294A>C (AP4B1)	XP_011538825.1:p.Lys432Gln
XM_011540524.1:c.1294A>C (AP4B1)	XP_011538826.1:p.Lys432Gln
XM_011540525.1:c.1240A>C (AP4B1)	XP_011538827.1:p.Lys414Gln
XM_011540527.1:c.901A>C (AP4B1)	XP_011538829.1:p.Lys301Gln
XM_011540528.1:c.544A>C (AP4B1)	XP_011538830.1:p.Lys182Gln
XR_246227.1:n.1493A>C (AP4B1)
XM_011540523.3:c.1294A>C (AP4B1)	XP_011538825.1:p.Lys432Gln
XM_011540525.3:c.1240A>C (AP4B1)	XP_011538827.1:p.Lys414Gln
XM_017000089.2:c.1207A>C (AP4B1)	XP_016855578.1:p.Lys403Gln
XM_017000090.1:c.1015A>C (AP4B1)	XP_016855579.1:p.Lys339Gln
XM_017000091.2:c.928A>C (AP4B1)	XP_016855580.1:p.Lys310Gln
XM_017000092.2:c.544A>C (AP4B1)	XP_016855581.1:p.Lys182Gln
XM_024452422.1:c.1240A>C (AP4B1)	XP_024308190.1:p.Lys414Gln
XM_024452423.1:c.1207A>C (AP4B1)	XP_024308191.1:p.Lys403Gln
XM_024452435.1:c.982A>C (AP4B1)	XP_024308203.1:p.Lys328Gln
XM_024452441.1:c.703A>C (AP4B1)	XP_024308209.1:p.Lys235Gln
XR_001736928.2:n.1949A>C (AP4B1)
XR_001736930.2:n.2093A>C (AP4B1)
XR_002958805.1:n.1513A>C (AP4B1)
XR_002958806.1:n.1990A>C (AP4B1)
XR_002958807.1:n.2048A>C (AP4B1)
NM_001253852.3:c.1519A>C (AP4B1) MANE Select	NP_001240781.1:p.Lys507Gln
NM_001253853.3:c.1222A>C (AP4B1)	NP_001240782.1:p.Lys408Gln
NM_001308312.2:c.1015A>C (AP4B1)	NP_001295241.1:p.Lys339Gln
NM_006594.5:c.1519A>C (AP4B1)	NP_006585.2:p.Lys507Gln