Canonical Allele Identifier: CA28995348

Gene: AP4B1 AP4B1-AS1

Linked Data

• dbSNP Id: rs771056149
• gnomAD v4: 1-113896368-T-C
• MyVariant Identifiers: chr1:g.114438990T>C (hg19) ; chr1:g.113896368T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896368T>C , CM000663.2:g.113896368T>C	GRCh38
NC_000001.10:g.114438990T>C , CM000663.1:g.114438990T>C	GRCh37
NC_000001.9:g.114240513T>C	NCBI36
NG_031901.1:g.13752A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.1175A>G (AP4B1)	ENSP00000358577.2:p.Glu392Gly
ENST00000369567.6:c.896A>G (AP4B1)	ENSP00000358580.1:p.Glu299Gly
ENST00000369571.3:c.1400A>G (AP4B1)	ENSP00000358584.3:p.Glu467Gly
ENST00000432415.6:c.896A>G (AP4B1)	ENSP00000393622.2:p.Glu299Gly
ENST00000460653.2:c.*470A>G (AP4B1)	ENSP00000518881.1:n.*470A>G
ENST00000484201.6:c.*150A>G (AP4B1)	ENSP00000518883.1:n.*150A>G
ENST00000489499.6:c.*742A>G (AP4B1)	ENSP00000518882.1:n.*742A>G
ENST00000713588.1:c.*511A>G (AP4B1)	ENSP00000518880.1:n.*511A>G
ENST00000713590.1:c.1400A>G (AP4B1)	ENSP00000518886.1:p.Glu467Gly
ENST00000369569.6:c.1400A>G (AP4B1) MANE Select	ENSP00000358582.1:p.Glu467Gly
ENST00000256658.8:c.1400A>G (AP4B1)	ENSP00000256658.4:p.Glu467Gly
ENST00000369567.5:c.896A>G (AP4B1)	ENSP00000358580.1:p.Glu299Gly
ENST00000369569.5:c.1400A>G (AP4B1)	ENSP00000358582.1:p.Glu467Gly
ENST00000462591.1:n.1572A>G (AP4B1)
ENST00000479285.5:n.628A>G (AP4B1)
ENST00000479801.1:n.234A>G (AP4B1)
ENST00000484201.5:n.962A>G (AP4B1)
NM_001253852.1:c.1400A>G (AP4B1)	NP_001240781.1:p.Glu467Gly
NM_001253852.2:c.1400A>G (AP4B1)	NP_001240781.1:p.Glu467Gly
NM_001253853.1:c.1103A>G (AP4B1)	NP_001240782.1:p.Glu368Gly
NM_001253853.2:c.1103A>G (AP4B1)	NP_001240782.1:p.Glu368Gly
NM_001308312.1:c.896A>G (AP4B1)	NP_001295241.1:p.Glu299Gly
NM_006594.3:c.1400A>G (AP4B1)	NP_006585.2:p.Glu467Gly
NM_006594.4:c.1400A>G (AP4B1)	NP_006585.2:p.Glu467Gly
NR_037864.1:n.247-1500T>C (AP4B1-AS1)
NR_125965.1:n.415-1500T>C (AP4B1-AS1)
XM_005270381.2:c.1199-330A>G (AP4B1)	XP_005270438.1:n.1199-330A>G
XM_011540523.1:c.1175A>G (AP4B1)	XP_011538825.1:p.Glu392Gly
XM_011540524.1:c.1175A>G (AP4B1)	XP_011538826.1:p.Glu392Gly
XM_011540525.1:c.1121A>G (AP4B1)	XP_011538827.1:p.Glu374Gly
XM_011540527.1:c.782A>G (AP4B1)	XP_011538829.1:p.Glu261Gly
XM_011540528.1:c.425A>G (AP4B1)	XP_011538830.1:p.Glu142Gly
XR_246227.1:n.1485-330A>G (AP4B1)
XM_011540523.3:c.1175A>G (AP4B1)	XP_011538825.1:p.Glu392Gly
XM_011540525.3:c.1121A>G (AP4B1)	XP_011538827.1:p.Glu374Gly
XM_017000089.2:c.1199-330A>G (AP4B1)	XP_016855578.1:n.1199-330A>G
XM_017000090.1:c.896A>G (AP4B1)	XP_016855579.1:p.Glu299Gly
XM_017000091.2:c.920-330A>G (AP4B1)	XP_016855580.1:n.920-330A>G
XM_017000092.2:c.425A>G (AP4B1)	XP_016855581.1:p.Glu142Gly
XM_024452422.1:c.1121A>G (AP4B1)	XP_024308190.1:p.Glu374Gly
XM_024452423.1:c.1199-330A>G (AP4B1)	XP_024308191.1:n.1199-330A>G
XM_024452435.1:c.974-330A>G (AP4B1)	XP_024308203.1:n.974-330A>G
XM_024452441.1:c.695-330A>G (AP4B1)	XP_024308209.1:n.695-330A>G
XR_001736928.2:n.1830A>G (AP4B1)
XR_001736930.2:n.1974A>G (AP4B1)
XR_002958805.1:n.1505-330A>G (AP4B1)
XR_002958806.1:n.1871A>G (AP4B1)
XR_002958807.1:n.1710A>G (AP4B1)
NM_001253852.3:c.1400A>G (AP4B1) MANE Select	NP_001240781.1:p.Glu467Gly
NM_001253853.3:c.1103A>G (AP4B1)	NP_001240782.1:p.Glu368Gly
NM_001308312.2:c.896A>G (AP4B1)	NP_001295241.1:p.Glu299Gly
NM_006594.5:c.1400A>G (AP4B1)	NP_006585.2:p.Glu467Gly