Canonical Allele Identifier: CA419565068

Gene: AP4B1 AP4B1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.114441389A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113898767A>C , CM000663.2:g.113898767A>C	GRCh38
NC_000001.10:g.114441389A>C , CM000663.1:g.114441389A>C	GRCh37
NC_000001.9:g.114242912A>C	NCBI36
NG_031901.1:g.11353T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369564.6:c.924T>G (AP4B1)	ENSP00000358577.2:p.Val308=
ENST00000369567.6:c.645T>G (AP4B1)	ENSP00000358580.1:p.Val215=
ENST00000369571.3:c.1149T>G (AP4B1)	ENSP00000358584.3:p.Val383=
ENST00000432415.6:c.645T>G (AP4B1)	ENSP00000393622.2:p.Val215=
ENST00000460653.2:c.*219T>G (AP4B1)	ENSP00000518881.1:n.*219T>G
ENST00000484201.6:c.524-4T>G (AP4B1)	ENSP00000518883.1:n.524-4T>G
ENST00000489499.6:c.*491T>G (AP4B1)	ENSP00000518882.1:n.*491T>G
ENST00000713588.1:c.*260T>G (AP4B1)	ENSP00000518880.1:n.*260T>G
ENST00000713590.1:c.1149T>G (AP4B1)	ENSP00000518886.1:p.Val383=
ENST00000369569.6:c.1149T>G (AP4B1) MANE Select	ENSP00000358582.1:p.Val383=
ENST00000256658.8:c.1149T>G (AP4B1)	ENSP00000256658.4:p.Val383=
ENST00000369567.5:c.645T>G (AP4B1)	ENSP00000358580.1:p.Val215=
ENST00000369569.5:c.1149T>G (AP4B1)	ENSP00000358582.1:p.Val383=
ENST00000479285.5:n.377T>G (AP4B1)
ENST00000484201.5:n.715-4T>G (AP4B1)
NM_001253852.1:c.1149T>G (AP4B1)	NP_001240781.1:p.Val383=
NM_001253852.2:c.1149T>G (AP4B1)	NP_001240781.1:p.Val383=
NM_001253853.1:c.852T>G (AP4B1)	NP_001240782.1:p.Val284=
NM_001253853.2:c.852T>G (AP4B1)	NP_001240782.1:p.Val284=
NM_001308312.1:c.645T>G (AP4B1)	NP_001295241.1:p.Val215=
NM_006594.3:c.1149T>G (AP4B1)	NP_006585.2:p.Val383=
NM_006594.4:c.1149T>G (AP4B1)	NP_006585.2:p.Val383=
NR_037864.1:n.368+778A>C (AP4B1-AS1)
NR_125965.1:n.536+778A>C (AP4B1-AS1)
XM_005270381.2:c.1149T>G (AP4B1)	XP_005270438.1:p.Val383=
XM_005270382.3:c.1149T>G (AP4B1)	XP_005270439.1:p.Val383=
XM_011540523.1:c.924T>G (AP4B1)	XP_011538825.1:p.Val308=
XM_011540524.1:c.924T>G (AP4B1)	XP_011538826.1:p.Val308=
XM_011540525.1:c.870T>G (AP4B1)	XP_011538827.1:p.Val290=
XM_011540527.1:c.531T>G (AP4B1)	XP_011538829.1:p.Val177=
XM_011540528.1:c.174T>G (AP4B1)	XP_011538830.1:p.Val58=
XR_246227.1:n.1331T>G (AP4B1)
XR_246228.2:n.1559T>G (AP4B1)
XM_011540523.3:c.924T>G (AP4B1)	XP_011538825.1:p.Val308=
XM_011540525.3:c.870T>G (AP4B1)	XP_011538827.1:p.Val290=
XM_017000089.2:c.1149T>G (AP4B1)	XP_016855578.1:p.Val383=
XM_017000090.1:c.645T>G (AP4B1)	XP_016855579.1:p.Val215=
XM_017000091.2:c.870T>G (AP4B1)	XP_016855580.1:p.Val290=
XM_017000092.2:c.174T>G (AP4B1)	XP_016855581.1:p.Val58=
XM_017000093.2:c.1149T>G (AP4B1)	XP_016855582.1:p.Val383=
XM_024452422.1:c.870T>G (AP4B1)	XP_024308190.1:p.Val290=
XM_024452423.1:c.1149T>G (AP4B1)	XP_024308191.1:p.Val383=
XM_024452435.1:c.924T>G (AP4B1)	XP_024308203.1:p.Val308=
XM_024452441.1:c.645T>G (AP4B1)	XP_024308209.1:p.Val215=
XR_001736928.2:n.1579T>G (AP4B1)
XR_001736930.2:n.1620T>G (AP4B1)
XR_002958805.1:n.1351T>G (AP4B1)
XR_002958806.1:n.1620T>G (AP4B1)
XR_002958807.1:n.1459T>G (AP4B1)
NM_001253852.3:c.1149T>G (AP4B1) MANE Select	NP_001240781.1:p.Val383=
NM_001253853.3:c.852T>G (AP4B1)	NP_001240782.1:p.Val284=
NM_001308312.2:c.645T>G (AP4B1)	NP_001295241.1:p.Val215=
NM_006594.5:c.1149T>G (AP4B1)	NP_006585.2:p.Val383=