Canonical Allele Identifier: CA341712817

Gene: AP4B1 AP4B1-AS1

Linked Data

• dbSNP Id: rs1558088378
• MyVariant Identifiers: chr1:g.114442652G>C (hg19) ; chr1:g.113900030G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113900030G>C , CM000663.2:g.113900030G>C	GRCh38
NC_000001.10:g.114442652G>C , CM000663.1:g.114442652G>C	GRCh37
NC_000001.9:g.114244175G>C	NCBI36
NG_031901.1:g.10090C>G
NG_057565.1:g.412G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.763C>G (AP4B1)	ENSP00000358577.2:p.Leu255Val
ENST00000369567.6:c.484C>G (AP4B1)	ENSP00000358580.1:p.Leu162Val
ENST00000369571.3:c.988C>G (AP4B1)	ENSP00000358584.3:p.Leu330Val
ENST00000432415.6:c.484C>G (AP4B1)	ENSP00000393622.2:p.Leu162Val
ENST00000460653.2:c.988C>G (AP4B1)	ENSP00000518881.1:p.Leu330Val
ENST00000484201.6:c.523+240C>G (AP4B1)	ENSP00000518883.1:n.523+240C>G
ENST00000489499.6:c.*330C>G (AP4B1)	ENSP00000518882.1:n.*330C>G
ENST00000713588.1:c.988C>G (AP4B1)	ENSP00000518880.1:p.Leu330Val
ENST00000713590.1:c.988C>G (AP4B1)	ENSP00000518886.1:p.Leu330Val
ENST00000369569.6:c.988C>G (AP4B1) MANE Select	ENSP00000358582.1:p.Leu330Val
ENST00000256658.8:c.988C>G (AP4B1)	ENSP00000256658.4:p.Leu330Val
ENST00000369564.5:c.763C>G (AP4B1)	ENSP00000358577.1:p.Leu255Val
ENST00000369567.5:c.484C>G (AP4B1)	ENSP00000358580.1:p.Leu162Val
ENST00000369569.5:c.988C>G (AP4B1)	ENSP00000358582.1:p.Leu330Val
ENST00000432415.5:c.484C>G (AP4B1)	ENSP00000393622.1:p.Leu162Val
ENST00000479285.5:n.216C>G (AP4B1)
ENST00000484201.5:n.714+240C>G (AP4B1)
ENST00000489499.5:n.956C>G (AP4B1)
NM_001253852.1:c.988C>G (AP4B1)	NP_001240781.1:p.Leu330Val
NM_001253852.2:c.988C>G (AP4B1)	NP_001240781.1:p.Leu330Val
NM_001253853.1:c.691C>G (AP4B1)	NP_001240782.1:p.Leu231Val
NM_001253853.2:c.691C>G (AP4B1)	NP_001240782.1:p.Leu231Val
NM_001308312.1:c.484C>G (AP4B1)	NP_001295241.1:p.Leu162Val
NM_006594.3:c.988C>G (AP4B1)	NP_006585.2:p.Leu330Val
NM_006594.4:c.988C>G (AP4B1)	NP_006585.2:p.Leu330Val
NR_037864.1:n.527G>C (AP4B1-AS1)
NR_125965.1:n.695G>C (AP4B1-AS1)
XM_005270381.2:c.988C>G (AP4B1)	XP_005270438.1:p.Leu330Val
XM_005270382.3:c.988C>G (AP4B1)	XP_005270439.1:p.Leu330Val
XM_011540523.1:c.763C>G (AP4B1)	XP_011538825.1:p.Leu255Val
XM_011540524.1:c.763C>G (AP4B1)	XP_011538826.1:p.Leu255Val
XM_011540525.1:c.709C>G (AP4B1)	XP_011538827.1:p.Leu237Val
XM_011540527.1:c.370C>G (AP4B1)	XP_011538829.1:p.Leu124Val
XR_246227.1:n.1170C>G (AP4B1)
XR_246228.2:n.1170C>G (AP4B1)
XM_011540523.3:c.763C>G (AP4B1)	XP_011538825.1:p.Leu255Val
XM_011540525.3:c.709C>G (AP4B1)	XP_011538827.1:p.Leu237Val
XM_017000089.2:c.988C>G (AP4B1)	XP_016855578.1:p.Leu330Val
XM_017000090.1:c.484C>G (AP4B1)	XP_016855579.1:p.Leu162Val
XM_017000091.2:c.709C>G (AP4B1)	XP_016855580.1:p.Leu237Val
XM_017000092.2:c.-257C>G (AP4B1)	XP_016855581.1:n.-257C>G
XM_017000093.2:c.988C>G (AP4B1)	XP_016855582.1:p.Leu330Val
XM_024452422.1:c.709C>G (AP4B1)	XP_024308190.1:p.Leu237Val
XM_024452423.1:c.988C>G (AP4B1)	XP_024308191.1:p.Leu330Val
XM_024452435.1:c.763C>G (AP4B1)	XP_024308203.1:p.Leu255Val
XM_024452441.1:c.484C>G (AP4B1)	XP_024308209.1:p.Leu162Val
XR_001736928.2:n.1190C>G (AP4B1)
XR_001736930.2:n.1190C>G (AP4B1)
XR_002958805.1:n.1190C>G (AP4B1)
XR_002958806.1:n.1190C>G (AP4B1)
XR_002958807.1:n.1070C>G (AP4B1)
NM_001253852.3:c.988C>G (AP4B1) MANE Select	NP_001240781.1:p.Leu330Val
NM_001253853.3:c.691C>G (AP4B1)	NP_001240782.1:p.Leu231Val
NM_001308312.2:c.484C>G (AP4B1)	NP_001295241.1:p.Leu162Val
NM_006594.5:c.988C>G (AP4B1)	NP_006585.2:p.Leu330Val