Canonical Allele Identifier: CA341709586

Gene: AP4B1 AP4B1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.114438650T>A (hg19) ; chr1:g.113896028T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896028T>A , CM000663.2:g.113896028T>A	GRCh38
NC_000001.10:g.114438650T>A , CM000663.1:g.114438650T>A	GRCh37
NC_000001.9:g.114240173T>A	NCBI36
NG_031901.1:g.14092A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.1296A>T (AP4B1)	ENSP00000358577.2:p.Lys432Asn
ENST00000369567.6:c.1017A>T (AP4B1)	ENSP00000358580.1:p.Lys339Asn
ENST00000369571.3:c.1521A>T (AP4B1)	ENSP00000358584.3:p.Lys507Asn
ENST00000432415.6:c.1017A>T (AP4B1)	ENSP00000393622.2:p.Lys339Asn
ENST00000460653.2:c.*591A>T (AP4B1)	ENSP00000518881.1:n.*591A>T
ENST00000484201.6:c.*271A>T (AP4B1)	ENSP00000518883.1:n.*271A>T
ENST00000489499.6:c.*863A>T (AP4B1)	ENSP00000518882.1:n.*863A>T
ENST00000713588.1:c.*632A>T (AP4B1)	ENSP00000518880.1:n.*632A>T
ENST00000713590.1:c.1521A>T (AP4B1)	ENSP00000518886.1:p.Lys507Asn
ENST00000369569.6:c.1521A>T (AP4B1) MANE Select	ENSP00000358582.1:p.Lys507Asn
ENST00000256658.8:c.1521A>T (AP4B1)	ENSP00000256658.4:p.Lys507Asn
ENST00000369567.5:c.1017A>T (AP4B1)	ENSP00000358580.1:p.Lys339Asn
ENST00000369569.5:c.1521A>T (AP4B1)	ENSP00000358582.1:p.Lys507Asn
ENST00000462591.1:n.1693A>T (AP4B1)
ENST00000479285.5:n.968A>T (AP4B1)
NM_001253852.1:c.1521A>T (AP4B1)	NP_001240781.1:p.Lys507Asn
NM_001253852.2:c.1521A>T (AP4B1)	NP_001240781.1:p.Lys507Asn
NM_001253853.1:c.1224A>T (AP4B1)	NP_001240782.1:p.Lys408Asn
NM_001253853.2:c.1224A>T (AP4B1)	NP_001240782.1:p.Lys408Asn
NM_001308312.1:c.1017A>T (AP4B1)	NP_001295241.1:p.Lys339Asn
NM_006594.3:c.1521A>T (AP4B1)	NP_006585.2:p.Lys507Asn
NM_006594.4:c.1521A>T (AP4B1)	NP_006585.2:p.Lys507Asn
NR_037864.1:n.247-1840T>A (AP4B1-AS1)
NR_125965.1:n.415-1840T>A (AP4B1-AS1)
XM_005270381.2:c.1209A>T (AP4B1)	XP_005270438.1:p.Lys403Asn
XM_011540523.1:c.1296A>T (AP4B1)	XP_011538825.1:p.Lys432Asn
XM_011540524.1:c.1296A>T (AP4B1)	XP_011538826.1:p.Lys432Asn
XM_011540525.1:c.1242A>T (AP4B1)	XP_011538827.1:p.Lys414Asn
XM_011540527.1:c.903A>T (AP4B1)	XP_011538829.1:p.Lys301Asn
XM_011540528.1:c.546A>T (AP4B1)	XP_011538830.1:p.Lys182Asn
XR_246227.1:n.1495A>T (AP4B1)
XM_011540523.3:c.1296A>T (AP4B1)	XP_011538825.1:p.Lys432Asn
XM_011540525.3:c.1242A>T (AP4B1)	XP_011538827.1:p.Lys414Asn
XM_017000089.2:c.1209A>T (AP4B1)	XP_016855578.1:p.Lys403Asn
XM_017000090.1:c.1017A>T (AP4B1)	XP_016855579.1:p.Lys339Asn
XM_017000091.2:c.930A>T (AP4B1)	XP_016855580.1:p.Lys310Asn
XM_017000092.2:c.546A>T (AP4B1)	XP_016855581.1:p.Lys182Asn
XM_024452422.1:c.1242A>T (AP4B1)	XP_024308190.1:p.Lys414Asn
XM_024452423.1:c.1209A>T (AP4B1)	XP_024308191.1:p.Lys403Asn
XM_024452435.1:c.984A>T (AP4B1)	XP_024308203.1:p.Lys328Asn
XM_024452441.1:c.705A>T (AP4B1)	XP_024308209.1:p.Lys235Asn
XR_001736928.2:n.1951A>T (AP4B1)
XR_001736930.2:n.2095A>T (AP4B1)
XR_002958805.1:n.1515A>T (AP4B1)
XR_002958806.1:n.1992A>T (AP4B1)
XR_002958807.1:n.2050A>T (AP4B1)
NM_001253852.3:c.1521A>T (AP4B1) MANE Select	NP_001240781.1:p.Lys507Asn
NM_001253853.3:c.1224A>T (AP4B1)	NP_001240782.1:p.Lys408Asn
NM_001308312.2:c.1017A>T (AP4B1)	NP_001295241.1:p.Lys339Asn
NM_006594.5:c.1521A>T (AP4B1)	NP_006585.2:p.Lys507Asn