Canonical Allele Identifier: CA1015887

Gene: AP4B1 AP4B1-AS1

Linked Data

• dbSNP Id: rs752193825
• ExAC: 1:114441385 T / C
• gnomAD v2: 1-114441385-T-C
• gnomAD v4: 1-113898763-T-C
• MyVariant Identifiers: chr1:g.114441385T>C (hg19) ; chr1:g.113898763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113898763T>C , CM000663.2:g.113898763T>C	GRCh38
NC_000001.10:g.114441385T>C , CM000663.1:g.114441385T>C	GRCh37
NC_000001.9:g.114242908T>C	NCBI36
NG_031901.1:g.11357A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369564.6:c.928A>G (AP4B1)	ENSP00000358577.2:p.Ile310Val
ENST00000369567.6:c.649A>G (AP4B1)	ENSP00000358580.1:p.Ile217Val
ENST00000369571.3:c.1153A>G (AP4B1)	ENSP00000358584.3:p.Ile385Val
ENST00000432415.6:c.649A>G (AP4B1)	ENSP00000393622.2:p.Ile217Val
ENST00000460653.2:c.*223A>G (AP4B1)	ENSP00000518881.1:n.*223A>G
ENST00000484201.6:c.524A>G (AP4B1)	ENSP00000518883.1:p.Asp175Gly
ENST00000489499.6:c.*495A>G (AP4B1)	ENSP00000518882.1:n.*495A>G
ENST00000713588.1:c.*264A>G (AP4B1)	ENSP00000518880.1:n.*264A>G
ENST00000713590.1:c.1153A>G (AP4B1)	ENSP00000518886.1:p.Ile385Val
ENST00000369569.6:c.1153A>G (AP4B1) MANE Select	ENSP00000358582.1:p.Ile385Val
ENST00000256658.8:c.1153A>G (AP4B1)	ENSP00000256658.4:p.Ile385Val
ENST00000369567.5:c.649A>G (AP4B1)	ENSP00000358580.1:p.Ile217Val
ENST00000369569.5:c.1153A>G (AP4B1)	ENSP00000358582.1:p.Ile385Val
ENST00000479285.5:n.381A>G (AP4B1)
ENST00000484201.5:n.715A>G (AP4B1)
NM_001253852.1:c.1153A>G (AP4B1)	NP_001240781.1:p.Ile385Val
NM_001253852.2:c.1153A>G (AP4B1)	NP_001240781.1:p.Ile385Val
NM_001253853.1:c.856A>G (AP4B1)	NP_001240782.1:p.Ile286Val
NM_001253853.2:c.856A>G (AP4B1)	NP_001240782.1:p.Ile286Val
NM_001308312.1:c.649A>G (AP4B1)	NP_001295241.1:p.Ile217Val
NM_006594.3:c.1153A>G (AP4B1)	NP_006585.2:p.Ile385Val
NM_006594.4:c.1153A>G (AP4B1)	NP_006585.2:p.Ile385Val
NR_037864.1:n.368+774T>C (AP4B1-AS1)
NR_125965.1:n.536+774T>C (AP4B1-AS1)
XM_005270381.2:c.1153A>G (AP4B1)	XP_005270438.1:p.Ile385Val
XM_005270382.3:c.1153A>G (AP4B1)	XP_005270439.1:p.Ile385Val
XM_011540523.1:c.928A>G (AP4B1)	XP_011538825.1:p.Ile310Val
XM_011540524.1:c.928A>G (AP4B1)	XP_011538826.1:p.Ile310Val
XM_011540525.1:c.874A>G (AP4B1)	XP_011538827.1:p.Ile292Val
XM_011540527.1:c.535A>G (AP4B1)	XP_011538829.1:p.Ile179Val
XM_011540528.1:c.178A>G (AP4B1)	XP_011538830.1:p.Ile60Val
XR_246227.1:n.1335A>G (AP4B1)
XR_246228.2:n.1563A>G (AP4B1)
XM_011540523.3:c.928A>G (AP4B1)	XP_011538825.1:p.Ile310Val
XM_011540525.3:c.874A>G (AP4B1)	XP_011538827.1:p.Ile292Val
XM_017000089.2:c.1153A>G (AP4B1)	XP_016855578.1:p.Ile385Val
XM_017000090.1:c.649A>G (AP4B1)	XP_016855579.1:p.Ile217Val
XM_017000091.2:c.874A>G (AP4B1)	XP_016855580.1:p.Ile292Val
XM_017000092.2:c.178A>G (AP4B1)	XP_016855581.1:p.Ile60Val
XM_017000093.2:c.1153A>G (AP4B1)	XP_016855582.1:p.Ile385Val
XM_024452422.1:c.874A>G (AP4B1)	XP_024308190.1:p.Ile292Val
XM_024452423.1:c.1153A>G (AP4B1)	XP_024308191.1:p.Ile385Val
XM_024452435.1:c.928A>G (AP4B1)	XP_024308203.1:p.Ile310Val
XM_024452441.1:c.649A>G (AP4B1)	XP_024308209.1:p.Ile217Val
XR_001736928.2:n.1583A>G (AP4B1)
XR_001736930.2:n.1624A>G (AP4B1)
XR_002958805.1:n.1355A>G (AP4B1)
XR_002958806.1:n.1624A>G (AP4B1)
XR_002958807.1:n.1463A>G (AP4B1)
NM_001253852.3:c.1153A>G (AP4B1) MANE Select	NP_001240781.1:p.Ile385Val
NM_001253853.3:c.856A>G (AP4B1)	NP_001240782.1:p.Ile286Val
NM_001308312.2:c.649A>G (AP4B1)	NP_001295241.1:p.Ile217Val
NM_006594.5:c.1153A>G (AP4B1)	NP_006585.2:p.Ile385Val