Canonical Allele Identifier: CA2647212857

Gene: AP4B1

Linked Data

• gnomAD v4: 1-113902949-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113902949C>A , CM000663.2:g.113902949C>A	GRCh38
NC_000001.10:g.114445571C>A , CM000663.1:g.114445571C>A	GRCh37
NC_000001.9:g.114247094C>A	NCBI36
NG_031901.1:g.7171G>T
NG_057565.1:g.3331C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.114-1064G>T	ENSP00000358577.2:n.114-1064G>T
ENST00000369567.6:c.113+1656G>T	ENSP00000358580.1:n.113+1656G>T
ENST00000369571.3:c.114-87G>T	ENSP00000358584.3:n.114-87G>T
ENST00000432415.6:c.113+1656G>T	ENSP00000393622.2:n.113+1656G>T
ENST00000460653.2:c.114-87G>T	ENSP00000518881.1:n.114-87G>T
ENST00000484201.6:c.114-1064G>T	ENSP00000518883.1:n.114-1064G>T
ENST00000489092.6:c.114-215G>T	ENSP00000518884.1:n.114-215G>T
ENST00000489499.6:c.114-87G>T	ENSP00000518882.1:n.114-87G>T
ENST00000713588.1:c.114-87G>T	ENSP00000518880.1:n.114-87G>T
ENST00000713590.1:c.114-87G>T	ENSP00000518886.1:n.114-87G>T
ENST00000369569.6:c.114-87G>T MANE Select	ENSP00000358582.1:n.114-87G>T
ENST00000256658.8:c.114-87G>T	ENSP00000256658.4:n.114-87G>T
ENST00000369564.5:c.114-1064G>T	ENSP00000358577.1:n.114-1064G>T
ENST00000369567.5:c.113+1656G>T	ENSP00000358580.1:n.113+1656G>T
ENST00000369569.5:c.114-87G>T	ENSP00000358582.1:n.114-87G>T
ENST00000369571.2:c.114-87G>T	ENSP00000358584.2:n.114-87G>T
ENST00000432415.5:c.113+1656G>T	ENSP00000393622.1:n.113+1656G>T
ENST00000484201.5:n.305-1064G>T
ENST00000489092.5:n.241-215G>T
ENST00000489499.5:n.230-87G>T
NM_001253852.1:c.114-87G>T	NP_001240781.1:n.114-87G>T
NM_001253852.2:c.114-87G>T	NP_001240781.1:n.114-87G>T
NM_001253853.1:c.-56-215G>T	NP_001240782.1:n.-56-215G>T
NM_001253853.2:c.-56-215G>T	NP_001240782.1:n.-56-215G>T
NM_001308312.1:c.113+1656G>T	NP_001295241.1:n.113+1656G>T
NM_006594.3:c.114-87G>T	NP_006585.2:n.114-87G>T
NM_006594.4:c.114-87G>T	NP_006585.2:n.114-87G>T
XM_005270381.2:c.114-87G>T	XP_005270438.1:n.114-87G>T
XM_005270382.3:c.114-87G>T	XP_005270439.1:n.114-87G>T
XM_011540523.1:c.114-1064G>T	XP_011538825.1:n.114-1064G>T
XM_011540524.1:c.114-1064G>T	XP_011538826.1:n.114-1064G>T
XM_011540525.1:c.114-87G>T	XP_011538827.1:n.114-87G>T
XM_011540527.1:c.-357-87G>T	XP_011538829.1:n.-357-87G>T
XR_246227.1:n.296-87G>T
XR_246228.2:n.296-87G>T
XM_011540523.3:c.114-1064G>T	XP_011538825.1:n.114-1064G>T
XM_011540525.3:c.114-87G>T	XP_011538827.1:n.114-87G>T
XM_017000089.2:c.114-87G>T	XP_016855578.1:n.114-87G>T
XM_017000090.1:c.113+1656G>T	XP_016855579.1:n.113+1656G>T
XM_017000091.2:c.114-87G>T	XP_016855580.1:n.114-87G>T
XM_017000092.2:c.-1131-87G>T	XP_016855581.1:n.-1131-87G>T
XM_017000093.2:c.114-87G>T	XP_016855582.1:n.114-87G>T
XM_024452422.1:c.114-87G>T	XP_024308190.1:n.114-87G>T
XM_024452423.1:c.114-87G>T	XP_024308191.1:n.114-87G>T
XM_024452435.1:c.114-1064G>T	XP_024308203.1:n.114-1064G>T
XM_024452441.1:c.113+1656G>T	XP_024308209.1:n.113+1656G>T
XR_001736928.2:n.316-87G>T
XR_001736930.2:n.316-87G>T
XR_002958805.1:n.316-87G>T
XR_002958806.1:n.316-87G>T
XR_002958807.1:n.196-87G>T
NM_001253852.3:c.114-87G>T MANE Select	NP_001240781.1:n.114-87G>T
NM_001253853.3:c.-56-215G>T	NP_001240782.1:n.-56-215G>T
NM_001308312.2:c.113+1656G>T	NP_001295241.1:n.113+1656G>T
NM_006594.5:c.114-87G>T	NP_006585.2:n.114-87G>T