Canonical Allele Identifier: CA341710716

Gene: AP4B1 AP4B1-AS1

Linked Data

• dbSNP Id: rs1193693731
• gnomAD v2: 1-114439084-T-C
• gnomAD v3: 1-113896462-T-C
• gnomAD v4: 1-113896462-T-C
• MyVariant Identifiers: chr1:g.114439084T>C (hg19) ; chr1:g.113896462T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896462T>C , CM000663.2:g.113896462T>C	GRCh38
NC_000001.10:g.114439084T>C , CM000663.1:g.114439084T>C	GRCh37
NC_000001.9:g.114240607T>C	NCBI36
NG_031901.1:g.13658A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.1081A>G (AP4B1)	ENSP00000358577.2:p.Lys361Glu
ENST00000369567.6:c.802A>G (AP4B1)	ENSP00000358580.1:p.Lys268Glu
ENST00000369571.3:c.1306A>G (AP4B1)	ENSP00000358584.3:p.Lys436Glu
ENST00000432415.6:c.802A>G (AP4B1)	ENSP00000393622.2:p.Lys268Glu
ENST00000460653.2:c.*376A>G (AP4B1)	ENSP00000518881.1:n.*376A>G
ENST00000484201.6:c.*56A>G (AP4B1)	ENSP00000518883.1:n.*56A>G
ENST00000489499.6:c.*648A>G (AP4B1)	ENSP00000518882.1:n.*648A>G
ENST00000713588.1:c.*417A>G (AP4B1)	ENSP00000518880.1:n.*417A>G
ENST00000713590.1:c.1306A>G (AP4B1)	ENSP00000518886.1:p.Lys436Glu
ENST00000369569.6:c.1306A>G (AP4B1) MANE Select	ENSP00000358582.1:p.Lys436Glu
ENST00000256658.8:c.1306A>G (AP4B1)	ENSP00000256658.4:p.Lys436Glu
ENST00000369567.5:c.802A>G (AP4B1)	ENSP00000358580.1:p.Lys268Glu
ENST00000369569.5:c.1306A>G (AP4B1)	ENSP00000358582.1:p.Lys436Glu
ENST00000462591.1:n.1478A>G (AP4B1)
ENST00000479285.5:n.534A>G (AP4B1)
ENST00000479801.1:n.140A>G (AP4B1)
ENST00000484201.5:n.868A>G (AP4B1)
NM_001253852.1:c.1306A>G (AP4B1)	NP_001240781.1:p.Lys436Glu
NM_001253852.2:c.1306A>G (AP4B1)	NP_001240781.1:p.Lys436Glu
NM_001253853.1:c.1009A>G (AP4B1)	NP_001240782.1:p.Lys337Glu
NM_001253853.2:c.1009A>G (AP4B1)	NP_001240782.1:p.Lys337Glu
NM_001308312.1:c.802A>G (AP4B1)	NP_001295241.1:p.Lys268Glu
NM_006594.3:c.1306A>G (AP4B1)	NP_006585.2:p.Lys436Glu
NM_006594.4:c.1306A>G (AP4B1)	NP_006585.2:p.Lys436Glu
NR_037864.1:n.247-1406T>C (AP4B1-AS1)
NR_125965.1:n.415-1406T>C (AP4B1-AS1)
XM_005270381.2:c.1199-424A>G (AP4B1)	XP_005270438.1:n.1199-424A>G
XM_011540523.1:c.1081A>G (AP4B1)	XP_011538825.1:p.Lys361Glu
XM_011540524.1:c.1081A>G (AP4B1)	XP_011538826.1:p.Lys361Glu
XM_011540525.1:c.1027A>G (AP4B1)	XP_011538827.1:p.Lys343Glu
XM_011540527.1:c.688A>G (AP4B1)	XP_011538829.1:p.Lys230Glu
XM_011540528.1:c.331A>G (AP4B1)	XP_011538830.1:p.Lys111Glu
XR_246227.1:n.1485-424A>G (AP4B1)
XM_011540523.3:c.1081A>G (AP4B1)	XP_011538825.1:p.Lys361Glu
XM_011540525.3:c.1027A>G (AP4B1)	XP_011538827.1:p.Lys343Glu
XM_017000089.2:c.1199-424A>G (AP4B1)	XP_016855578.1:n.1199-424A>G
XM_017000090.1:c.802A>G (AP4B1)	XP_016855579.1:p.Lys268Glu
XM_017000091.2:c.920-424A>G (AP4B1)	XP_016855580.1:n.920-424A>G
XM_017000092.2:c.331A>G (AP4B1)	XP_016855581.1:p.Lys111Glu
XM_024452422.1:c.1027A>G (AP4B1)	XP_024308190.1:p.Lys343Glu
XM_024452423.1:c.1199-424A>G (AP4B1)	XP_024308191.1:n.1199-424A>G
XM_024452435.1:c.974-424A>G (AP4B1)	XP_024308203.1:n.974-424A>G
XM_024452441.1:c.695-424A>G (AP4B1)	XP_024308209.1:n.695-424A>G
XR_001736928.2:n.1736A>G (AP4B1)
XR_001736930.2:n.1880A>G (AP4B1)
XR_002958805.1:n.1505-424A>G (AP4B1)
XR_002958806.1:n.1777A>G (AP4B1)
XR_002958807.1:n.1616A>G (AP4B1)
NM_001253852.3:c.1306A>G (AP4B1) MANE Select	NP_001240781.1:p.Lys436Glu
NM_001253853.3:c.1009A>G (AP4B1)	NP_001240782.1:p.Lys337Glu
NM_001308312.2:c.802A>G (AP4B1)	NP_001295241.1:p.Lys268Glu
NM_006594.5:c.1306A>G (AP4B1)	NP_006585.2:p.Lys436Glu