Canonical Allele Identifier: CA1016140

Gene: AP4B1

Linked Data

• ClinVar Variation Id: 828196
• ClinVar RCV Id: RCV001028105 ; RCV001529958
• dbSNP Id: rs74361335
• ExAC: 1:114445279 G / A
• gnomAD v2: 1-114445279-G-A
• gnomAD v3: 1-113902657-G-A
• gnomAD v4: 1-113902657-G-A
• MyVariant Identifiers: chr1:g.114445279G>A (hg19) ; chr1:g.113902657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113902657G>A , CM000663.2:g.113902657G>A	GRCh38
NC_000001.10:g.114445279G>A , CM000663.1:g.114445279G>A	GRCh37
NC_000001.9:g.114246802G>A	NCBI36
NG_031901.1:g.7463C>T
NG_057565.1:g.3039G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.114-772C>T	ENSP00000358577.2:n.114-772C>T
ENST00000369567.6:c.113+1948C>T	ENSP00000358580.1:n.113+1948C>T
ENST00000369571.3:c.319C>T	ENSP00000358584.3:p.Arg107Trp
ENST00000432415.6:c.113+1948C>T	ENSP00000393622.2:n.113+1948C>T
ENST00000460653.2:c.319C>T	ENSP00000518881.1:p.Arg107Trp
ENST00000484201.6:c.114-772C>T	ENSP00000518883.1:n.114-772C>T
ENST00000489092.6:c.191C>T	ENSP00000518884.1:p.Thr64Met
ENST00000489499.6:c.319C>T	ENSP00000518882.1:p.Arg107Trp
ENST00000713588.1:c.319C>T	ENSP00000518880.1:p.Arg107Trp
ENST00000713590.1:c.319C>T	ENSP00000518886.1:p.Arg107Trp
ENST00000369569.6:c.319C>T MANE Select	ENSP00000358582.1:p.Arg107Trp
ENST00000256658.8:c.319C>T	ENSP00000256658.4:p.Arg107Trp
ENST00000369564.5:c.114-772C>T	ENSP00000358577.1:n.114-772C>T
ENST00000369567.5:c.113+1948C>T	ENSP00000358580.1:n.113+1948C>T
ENST00000369569.5:c.319C>T	ENSP00000358582.1:p.Arg107Trp
ENST00000369571.2:c.319C>T	ENSP00000358584.2:p.Arg107Trp
ENST00000432415.5:c.113+1948C>T	ENSP00000393622.1:n.113+1948C>T
ENST00000484201.5:n.305-772C>T
ENST00000489092.5:n.318C>T
ENST00000489499.5:n.435C>T
NM_001253852.1:c.319C>T	NP_001240781.1:p.Arg107Trp
NM_001253852.2:c.319C>T	NP_001240781.1:p.Arg107Trp
NM_001253853.1:c.22C>T	NP_001240782.1:p.Arg8Trp
NM_001253853.2:c.22C>T	NP_001240782.1:p.Arg8Trp
NM_001308312.1:c.113+1948C>T	NP_001295241.1:n.113+1948C>T
NM_006594.3:c.319C>T	NP_006585.2:p.Arg107Trp
NM_006594.4:c.319C>T	NP_006585.2:p.Arg107Trp
XM_005270381.2:c.319C>T	XP_005270438.1:p.Arg107Trp
XM_005270382.3:c.319C>T	XP_005270439.1:p.Arg107Trp
XM_011540523.1:c.114-772C>T	XP_011538825.1:n.114-772C>T
XM_011540524.1:c.114-772C>T	XP_011538826.1:n.114-772C>T
XM_011540525.1:c.319C>T	XP_011538827.1:p.Arg107Trp
XM_011540527.1:c.-152C>T	XP_011538829.1:n.-152C>T
XR_246227.1:n.501C>T
XR_246228.2:n.501C>T
XM_011540523.3:c.114-772C>T	XP_011538825.1:n.114-772C>T
XM_011540525.3:c.319C>T	XP_011538827.1:p.Arg107Trp
XM_017000089.2:c.319C>T	XP_016855578.1:p.Arg107Trp
XM_017000090.1:c.113+1948C>T	XP_016855579.1:n.113+1948C>T
XM_017000091.2:c.319C>T	XP_016855580.1:p.Arg107Trp
XM_017000092.2:c.-926C>T	XP_016855581.1:n.-926C>T
XM_017000093.2:c.319C>T	XP_016855582.1:p.Arg107Trp
XM_024452422.1:c.319C>T	XP_024308190.1:p.Arg107Trp
XM_024452423.1:c.319C>T	XP_024308191.1:p.Arg107Trp
XM_024452435.1:c.114-772C>T	XP_024308203.1:n.114-772C>T
XM_024452441.1:c.113+1948C>T	XP_024308209.1:n.113+1948C>T
XR_001736928.2:n.521C>T
XR_001736930.2:n.521C>T
XR_002958805.1:n.521C>T
XR_002958806.1:n.521C>T
XR_002958807.1:n.401C>T
NM_001253852.3:c.319C>T MANE Select	NP_001240781.1:p.Arg107Trp
NM_001253853.3:c.22C>T	NP_001240782.1:p.Arg8Trp
NM_001308312.2:c.113+1948C>T	NP_001295241.1:n.113+1948C>T
NM_006594.5:c.319C>T	NP_006585.2:p.Arg107Trp