Canonical Allele Identifier: CA419703267

Gene: AP4B1 AP4B1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.114438959G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896337G>C , CM000663.2:g.113896337G>C	GRCh38
NC_000001.10:g.114438959G>C , CM000663.1:g.114438959G>C	GRCh37
NC_000001.9:g.114240482G>C	NCBI36
NG_031901.1:g.13783C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369564.6:c.1206C>G (AP4B1)	ENSP00000358577.2:p.Leu402=
ENST00000369567.6:c.927C>G (AP4B1)	ENSP00000358580.1:p.Leu309=
ENST00000369571.3:c.1431C>G (AP4B1)	ENSP00000358584.3:p.Leu477=
ENST00000432415.6:c.927C>G (AP4B1)	ENSP00000393622.2:p.Leu309=
ENST00000460653.2:c.*501C>G (AP4B1)	ENSP00000518881.1:n.*501C>G
ENST00000484201.6:c.*181C>G (AP4B1)	ENSP00000518883.1:n.*181C>G
ENST00000489499.6:c.*773C>G (AP4B1)	ENSP00000518882.1:n.*773C>G
ENST00000713588.1:c.*542C>G (AP4B1)	ENSP00000518880.1:n.*542C>G
ENST00000713590.1:c.1431C>G (AP4B1)	ENSP00000518886.1:p.Leu477=
ENST00000369569.6:c.1431C>G (AP4B1) MANE Select	ENSP00000358582.1:p.Leu477=
ENST00000256658.8:c.1431C>G (AP4B1)	ENSP00000256658.4:p.Leu477=
ENST00000369567.5:c.927C>G (AP4B1)	ENSP00000358580.1:p.Leu309=
ENST00000369569.5:c.1431C>G (AP4B1)	ENSP00000358582.1:p.Leu477=
ENST00000462591.1:n.1603C>G (AP4B1)
ENST00000479285.5:n.659C>G (AP4B1)
ENST00000479801.1:n.265C>G (AP4B1)
NM_001253852.1:c.1431C>G (AP4B1)	NP_001240781.1:p.Leu477=
NM_001253852.2:c.1431C>G (AP4B1)	NP_001240781.1:p.Leu477=
NM_001253853.1:c.1134C>G (AP4B1)	NP_001240782.1:p.Leu378=
NM_001253853.2:c.1134C>G (AP4B1)	NP_001240782.1:p.Leu378=
NM_001308312.1:c.927C>G (AP4B1)	NP_001295241.1:p.Leu309=
NM_006594.3:c.1431C>G (AP4B1)	NP_006585.2:p.Leu477=
NM_006594.4:c.1431C>G (AP4B1)	NP_006585.2:p.Leu477=
NR_037864.1:n.247-1531G>C (AP4B1-AS1)
NR_125965.1:n.415-1531G>C (AP4B1-AS1)
XM_005270381.2:c.1199-299C>G (AP4B1)	XP_005270438.1:n.1199-299C>G
XM_011540523.1:c.1206C>G (AP4B1)	XP_011538825.1:p.Leu402=
XM_011540524.1:c.1206C>G (AP4B1)	XP_011538826.1:p.Leu402=
XM_011540525.1:c.1152C>G (AP4B1)	XP_011538827.1:p.Leu384=
XM_011540527.1:c.813C>G (AP4B1)	XP_011538829.1:p.Leu271=
XM_011540528.1:c.456C>G (AP4B1)	XP_011538830.1:p.Leu152=
XR_246227.1:n.1485-299C>G (AP4B1)
XM_011540523.3:c.1206C>G (AP4B1)	XP_011538825.1:p.Leu402=
XM_011540525.3:c.1152C>G (AP4B1)	XP_011538827.1:p.Leu384=
XM_017000089.2:c.1199-299C>G (AP4B1)	XP_016855578.1:n.1199-299C>G
XM_017000090.1:c.927C>G (AP4B1)	XP_016855579.1:p.Leu309=
XM_017000091.2:c.920-299C>G (AP4B1)	XP_016855580.1:n.920-299C>G
XM_017000092.2:c.456C>G (AP4B1)	XP_016855581.1:p.Leu152=
XM_024452422.1:c.1152C>G (AP4B1)	XP_024308190.1:p.Leu384=
XM_024452423.1:c.1199-299C>G (AP4B1)	XP_024308191.1:n.1199-299C>G
XM_024452435.1:c.974-299C>G (AP4B1)	XP_024308203.1:n.974-299C>G
XM_024452441.1:c.695-299C>G (AP4B1)	XP_024308209.1:n.695-299C>G
XR_001736928.2:n.1861C>G (AP4B1)
XR_001736930.2:n.2005C>G (AP4B1)
XR_002958805.1:n.1505-299C>G (AP4B1)
XR_002958806.1:n.1902C>G (AP4B1)
XR_002958807.1:n.1741C>G (AP4B1)
NM_001253852.3:c.1431C>G (AP4B1) MANE Select	NP_001240781.1:p.Leu477=
NM_001253853.3:c.1134C>G (AP4B1)	NP_001240782.1:p.Leu378=
NM_001308312.2:c.927C>G (AP4B1)	NP_001295241.1:p.Leu309=
NM_006594.5:c.1431C>G (AP4B1)	NP_006585.2:p.Leu477=