Canonical Allele Identifier: CA341709643

Gene: AP4B1 AP4B1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.114438658C>G (hg19) ; chr1:g.113896036C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896036C>G , CM000663.2:g.113896036C>G	GRCh38
NC_000001.10:g.114438658C>G , CM000663.1:g.114438658C>G	GRCh37
NC_000001.9:g.114240181C>G	NCBI36
NG_031901.1:g.14084G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.1288G>C (AP4B1)	ENSP00000358577.2:p.Glu430Gln
ENST00000369567.6:c.1009G>C (AP4B1)	ENSP00000358580.1:p.Glu337Gln
ENST00000369571.3:c.1513G>C (AP4B1)	ENSP00000358584.3:p.Glu505Gln
ENST00000432415.6:c.1009G>C (AP4B1)	ENSP00000393622.2:p.Glu337Gln
ENST00000460653.2:c.*583G>C (AP4B1)	ENSP00000518881.1:n.*583G>C
ENST00000484201.6:c.*263G>C (AP4B1)	ENSP00000518883.1:n.*263G>C
ENST00000489499.6:c.*855G>C (AP4B1)	ENSP00000518882.1:n.*855G>C
ENST00000713588.1:c.*624G>C (AP4B1)	ENSP00000518880.1:n.*624G>C
ENST00000713590.1:c.1513G>C (AP4B1)	ENSP00000518886.1:p.Glu505Gln
ENST00000369569.6:c.1513G>C (AP4B1) MANE Select	ENSP00000358582.1:p.Glu505Gln
ENST00000256658.8:c.1513G>C (AP4B1)	ENSP00000256658.4:p.Glu505Gln
ENST00000369567.5:c.1009G>C (AP4B1)	ENSP00000358580.1:p.Glu337Gln
ENST00000369569.5:c.1513G>C (AP4B1)	ENSP00000358582.1:p.Glu505Gln
ENST00000462591.1:n.1685G>C (AP4B1)
ENST00000479285.5:n.960G>C (AP4B1)
NM_001253852.1:c.1513G>C (AP4B1)	NP_001240781.1:p.Glu505Gln
NM_001253852.2:c.1513G>C (AP4B1)	NP_001240781.1:p.Glu505Gln
NM_001253853.1:c.1216G>C (AP4B1)	NP_001240782.1:p.Glu406Gln
NM_001253853.2:c.1216G>C (AP4B1)	NP_001240782.1:p.Glu406Gln
NM_001308312.1:c.1009G>C (AP4B1)	NP_001295241.1:p.Glu337Gln
NM_006594.3:c.1513G>C (AP4B1)	NP_006585.2:p.Glu505Gln
NM_006594.4:c.1513G>C (AP4B1)	NP_006585.2:p.Glu505Gln
NR_037864.1:n.247-1832C>G (AP4B1-AS1)
NR_125965.1:n.415-1832C>G (AP4B1-AS1)
XM_005270381.2:c.1201G>C (AP4B1)	XP_005270438.1:p.Glu401Gln
XM_011540523.1:c.1288G>C (AP4B1)	XP_011538825.1:p.Glu430Gln
XM_011540524.1:c.1288G>C (AP4B1)	XP_011538826.1:p.Glu430Gln
XM_011540525.1:c.1234G>C (AP4B1)	XP_011538827.1:p.Glu412Gln
XM_011540527.1:c.895G>C (AP4B1)	XP_011538829.1:p.Glu299Gln
XM_011540528.1:c.538G>C (AP4B1)	XP_011538830.1:p.Glu180Gln
XR_246227.1:n.1487G>C (AP4B1)
XM_011540523.3:c.1288G>C (AP4B1)	XP_011538825.1:p.Glu430Gln
XM_011540525.3:c.1234G>C (AP4B1)	XP_011538827.1:p.Glu412Gln
XM_017000089.2:c.1201G>C (AP4B1)	XP_016855578.1:p.Glu401Gln
XM_017000090.1:c.1009G>C (AP4B1)	XP_016855579.1:p.Glu337Gln
XM_017000091.2:c.922G>C (AP4B1)	XP_016855580.1:p.Glu308Gln
XM_017000092.2:c.538G>C (AP4B1)	XP_016855581.1:p.Glu180Gln
XM_024452422.1:c.1234G>C (AP4B1)	XP_024308190.1:p.Glu412Gln
XM_024452423.1:c.1201G>C (AP4B1)	XP_024308191.1:p.Glu401Gln
XM_024452435.1:c.976G>C (AP4B1)	XP_024308203.1:p.Glu326Gln
XM_024452441.1:c.697G>C (AP4B1)	XP_024308209.1:p.Glu233Gln
XR_001736928.2:n.1943G>C (AP4B1)
XR_001736930.2:n.2087G>C (AP4B1)
XR_002958805.1:n.1507G>C (AP4B1)
XR_002958806.1:n.1984G>C (AP4B1)
XR_002958807.1:n.2042G>C (AP4B1)
NM_001253852.3:c.1513G>C (AP4B1) MANE Select	NP_001240781.1:p.Glu505Gln
NM_001253853.3:c.1216G>C (AP4B1)	NP_001240782.1:p.Glu406Gln
NM_001308312.2:c.1009G>C (AP4B1)	NP_001295241.1:p.Glu337Gln
NM_006594.5:c.1513G>C (AP4B1)	NP_006585.2:p.Glu505Gln