Canonical Allele Identifier: CA10585950

Gene: AP4B1

Linked Data

• ClinVar Variation Id: 252667
• ClinVar RCV Id: RCV000239291 ; RCV001849350 ; RCV001854921
• dbSNP Id: rs879255396
• gnomAD v4: 1-113902864-T-G
• MyVariant Identifiers: chr1:g.114445486T>G (hg19) ; chr1:g.113902864T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113902864T>G , CM000663.2:g.113902864T>G	GRCh38
NC_000001.10:g.114445486T>G , CM000663.1:g.114445486T>G	GRCh37
NC_000001.9:g.114247009T>G	NCBI36
NG_031901.1:g.7256A>C
NG_057565.1:g.3246T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.114-979A>C	ENSP00000358577.2:n.114-979A>C
ENST00000369567.6:c.113+1741A>C	ENSP00000358580.1:n.113+1741A>C
ENST00000369571.3:c.114-2A>C	ENSP00000358584.3:n.114-2A>C
ENST00000432415.6:c.113+1741A>C	ENSP00000393622.2:n.113+1741A>C
ENST00000460653.2:c.114-2A>C	ENSP00000518881.1:n.114-2A>C
ENST00000484201.6:c.114-979A>C	ENSP00000518883.1:n.114-979A>C
ENST00000489092.6:c.114-130A>C	ENSP00000518884.1:n.114-130A>C
ENST00000489499.6:c.114-2A>C	ENSP00000518882.1:n.114-2A>C
ENST00000713588.1:c.114-2A>C	ENSP00000518880.1:n.114-2A>C
ENST00000713590.1:c.114-2A>C	ENSP00000518886.1:n.114-2A>C
ENST00000369569.6:c.114-2A>C MANE Select	ENSP00000358582.1:n.114-2A>C
ENST00000256658.8:c.114-2A>C	ENSP00000256658.4:n.114-2A>C
ENST00000369564.5:c.114-979A>C	ENSP00000358577.1:n.114-979A>C
ENST00000369567.5:c.113+1741A>C	ENSP00000358580.1:n.113+1741A>C
ENST00000369569.5:c.114-2A>C	ENSP00000358582.1:n.114-2A>C
ENST00000369571.2:c.114-2A>C	ENSP00000358584.2:n.114-2A>C
ENST00000432415.5:c.113+1741A>C	ENSP00000393622.1:n.113+1741A>C
ENST00000484201.5:n.305-979A>C
ENST00000489092.5:n.241-130A>C
ENST00000489499.5:n.230-2A>C
NM_001253852.1:c.114-2A>C	NP_001240781.1:n.114-2A>C
NM_001253852.2:c.114-2A>C	NP_001240781.1:n.114-2A>C
NM_001253853.1:c.-56-130A>C	NP_001240782.1:n.-56-130A>C
NM_001253853.2:c.-56-130A>C	NP_001240782.1:n.-56-130A>C
NM_001308312.1:c.113+1741A>C	NP_001295241.1:n.113+1741A>C
NM_006594.3:c.114-2A>C	NP_006585.2:n.114-2A>C
NM_006594.4:c.114-2A>C	NP_006585.2:n.114-2A>C
XM_005270381.2:c.114-2A>C	XP_005270438.1:n.114-2A>C
XM_005270382.3:c.114-2A>C	XP_005270439.1:n.114-2A>C
XM_011540523.1:c.114-979A>C	XP_011538825.1:n.114-979A>C
XM_011540524.1:c.114-979A>C	XP_011538826.1:n.114-979A>C
XM_011540525.1:c.114-2A>C	XP_011538827.1:n.114-2A>C
XM_011540527.1:c.-357-2A>C	XP_011538829.1:n.-357-2A>C
XR_246227.1:n.296-2A>C
XR_246228.2:n.296-2A>C
XM_011540523.3:c.114-979A>C	XP_011538825.1:n.114-979A>C
XM_011540525.3:c.114-2A>C	XP_011538827.1:n.114-2A>C
XM_017000089.2:c.114-2A>C	XP_016855578.1:n.114-2A>C
XM_017000090.1:c.113+1741A>C	XP_016855579.1:n.113+1741A>C
XM_017000091.2:c.114-2A>C	XP_016855580.1:n.114-2A>C
XM_017000092.2:c.-1131-2A>C	XP_016855581.1:n.-1131-2A>C
XM_017000093.2:c.114-2A>C	XP_016855582.1:n.114-2A>C
XM_024452422.1:c.114-2A>C	XP_024308190.1:n.114-2A>C
XM_024452423.1:c.114-2A>C	XP_024308191.1:n.114-2A>C
XM_024452435.1:c.114-979A>C	XP_024308203.1:n.114-979A>C
XM_024452441.1:c.113+1741A>C	XP_024308209.1:n.113+1741A>C
XR_001736928.2:n.316-2A>C
XR_001736930.2:n.316-2A>C
XR_002958805.1:n.316-2A>C
XR_002958806.1:n.316-2A>C
XR_002958807.1:n.196-2A>C
NM_001253852.3:c.114-2A>C MANE Select	NP_001240781.1:n.114-2A>C
NM_001253853.3:c.-56-130A>C	NP_001240782.1:n.-56-130A>C
NM_001308312.2:c.113+1741A>C	NP_001295241.1:n.113+1741A>C
NM_006594.5:c.114-2A>C	NP_006585.2:n.114-2A>C