Canonical Allele Identifier: CA1016160

Gene: AP4B1

Linked Data

• dbSNP Id: rs765844176
• ExAC: 1:114445374 T / C
• gnomAD v2: 1-114445374-T-C
• MyVariant Identifiers: chr1:g.114445374T>C (hg19) ; chr1:g.113902752T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113902752T>C , CM000663.2:g.113902752T>C	GRCh38
NC_000001.10:g.114445374T>C , CM000663.1:g.114445374T>C	GRCh37
NC_000001.9:g.114246897T>C	NCBI36
NG_031901.1:g.7368A>G
NG_057565.1:g.3134T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.114-867A>G	ENSP00000358577.2:n.114-867A>G
ENST00000369567.6:c.113+1853A>G	ENSP00000358580.1:n.113+1853A>G
ENST00000369571.3:c.224A>G	ENSP00000358584.3:p.Tyr75Cys
ENST00000432415.6:c.113+1853A>G	ENSP00000393622.2:n.113+1853A>G
ENST00000460653.2:c.224A>G	ENSP00000518881.1:p.Tyr75Cys
ENST00000484201.6:c.114-867A>G	ENSP00000518883.1:n.114-867A>G
ENST00000489092.6:c.114-18A>G	ENSP00000518884.1:n.114-18A>G
ENST00000489499.6:c.224A>G	ENSP00000518882.1:p.Tyr75Cys
ENST00000713588.1:c.224A>G	ENSP00000518880.1:p.Tyr75Cys
ENST00000713590.1:c.224A>G	ENSP00000518886.1:p.Tyr75Cys
ENST00000369569.6:c.224A>G MANE Select	ENSP00000358582.1:p.Tyr75Cys
ENST00000256658.8:c.224A>G	ENSP00000256658.4:p.Tyr75Cys
ENST00000369564.5:c.114-867A>G	ENSP00000358577.1:n.114-867A>G
ENST00000369567.5:c.113+1853A>G	ENSP00000358580.1:n.113+1853A>G
ENST00000369569.5:c.224A>G	ENSP00000358582.1:p.Tyr75Cys
ENST00000369571.2:c.224A>G	ENSP00000358584.2:p.Tyr75Cys
ENST00000432415.5:c.113+1853A>G	ENSP00000393622.1:n.113+1853A>G
ENST00000484201.5:n.305-867A>G
ENST00000489092.5:n.241-18A>G
ENST00000489499.5:n.340A>G
NM_001253852.1:c.224A>G	NP_001240781.1:p.Tyr75Cys
NM_001253852.2:c.224A>G	NP_001240781.1:p.Tyr75Cys
NM_001253853.1:c.-56-18A>G	NP_001240782.1:n.-56-18A>G
NM_001253853.2:c.-56-18A>G	NP_001240782.1:n.-56-18A>G
NM_001308312.1:c.113+1853A>G	NP_001295241.1:n.113+1853A>G
NM_006594.3:c.224A>G	NP_006585.2:p.Tyr75Cys
NM_006594.4:c.224A>G	NP_006585.2:p.Tyr75Cys
XM_005270381.2:c.224A>G	XP_005270438.1:p.Tyr75Cys
XM_005270382.3:c.224A>G	XP_005270439.1:p.Tyr75Cys
XM_011540523.1:c.114-867A>G	XP_011538825.1:n.114-867A>G
XM_011540524.1:c.114-867A>G	XP_011538826.1:n.114-867A>G
XM_011540525.1:c.224A>G	XP_011538827.1:p.Tyr75Cys
XM_011540527.1:c.-247A>G	XP_011538829.1:n.-247A>G
XR_246227.1:n.406A>G
XR_246228.2:n.406A>G
XM_011540523.3:c.114-867A>G	XP_011538825.1:n.114-867A>G
XM_011540525.3:c.224A>G	XP_011538827.1:p.Tyr75Cys
XM_017000089.2:c.224A>G	XP_016855578.1:p.Tyr75Cys
XM_017000090.1:c.113+1853A>G	XP_016855579.1:n.113+1853A>G
XM_017000091.2:c.224A>G	XP_016855580.1:p.Tyr75Cys
XM_017000092.2:c.-1021A>G	XP_016855581.1:n.-1021A>G
XM_017000093.2:c.224A>G	XP_016855582.1:p.Tyr75Cys
XM_024452422.1:c.224A>G	XP_024308190.1:p.Tyr75Cys
XM_024452423.1:c.224A>G	XP_024308191.1:p.Tyr75Cys
XM_024452435.1:c.114-867A>G	XP_024308203.1:n.114-867A>G
XM_024452441.1:c.113+1853A>G	XP_024308209.1:n.113+1853A>G
XR_001736928.2:n.426A>G
XR_001736930.2:n.426A>G
XR_002958805.1:n.426A>G
XR_002958806.1:n.426A>G
XR_002958807.1:n.306A>G
NM_001253852.3:c.224A>G MANE Select	NP_001240781.1:p.Tyr75Cys
NM_001253853.3:c.-56-18A>G	NP_001240782.1:n.-56-18A>G
NM_001308312.2:c.113+1853A>G	NP_001295241.1:n.113+1853A>G
NM_006594.5:c.224A>G	NP_006585.2:p.Tyr75Cys