Canonical Allele Identifier: CA341711557
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113898718C>A , CM000663.2:g.113898718C>A GRCh38
NC_000001.10:g.114441340C>A , CM000663.1:g.114441340C>A GRCh37
NC_000001.9:g.114242863C>A NCBI36
NG_031901.1:g.11402G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369564.6:c.973G>T (AP4B1) ENSP00000358577.2:p.Val325Leu
ENST00000369567.6:c.694G>T (AP4B1) ENSP00000358580.1:p.Val232Leu
ENST00000369571.3:c.1198G>T (AP4B1) ENSP00000358584.3:p.Val400Leu
ENST00000432415.6:c.694G>T (AP4B1) ENSP00000393622.2:p.Val232Leu
ENST00000460653.2:c.*268G>T (AP4B1) ENSP00000518881.1:n.*268G>T
ENST00000484201.6:c.569G>T (AP4B1) ENSP00000518883.1:p.Ser190Ile
ENST00000489499.6:c.*540G>T (AP4B1) ENSP00000518882.1:n.*540G>T
ENST00000713588.1:c.*309G>T (AP4B1) ENSP00000518880.1:n.*309G>T
ENST00000713590.1:c.1198G>T (AP4B1) ENSP00000518886.1:p.Val400Leu
ENST00000369569.6:c.1198G>T (AP4B1) MANE Select ENSP00000358582.1:p.Val400Leu
ENST00000256658.8:c.1198G>T (AP4B1) ENSP00000256658.4:p.Val400Leu
ENST00000369567.5:c.694G>T (AP4B1) ENSP00000358580.1:p.Val232Leu
ENST00000369569.5:c.1198G>T (AP4B1) ENSP00000358582.1:p.Val400Leu
ENST00000479285.5:n.426G>T (AP4B1)
ENST00000484201.5:n.760G>T (AP4B1)
NM_001253852.1:c.1198G>T (AP4B1) NP_001240781.1:p.Val400Leu
NM_001253852.2:c.1198G>T (AP4B1) NP_001240781.1:p.Val400Leu
NM_001253853.1:c.901G>T (AP4B1) NP_001240782.1:p.Val301Leu
NM_001253853.2:c.901G>T (AP4B1) NP_001240782.1:p.Val301Leu
NM_001308312.1:c.694G>T (AP4B1) NP_001295241.1:p.Val232Leu
NM_006594.3:c.1198G>T (AP4B1) NP_006585.2:p.Val400Leu
NM_006594.4:c.1198G>T (AP4B1) NP_006585.2:p.Val400Leu
NR_037864.1:n.368+729C>A (AP4B1-AS1)
NR_125965.1:n.536+729C>A (AP4B1-AS1)
XM_005270381.2:c.1198G>T (AP4B1) XP_005270438.1:p.Glu400Ter
XM_005270382.3:c.1198G>T (AP4B1) XP_005270439.1:p.Glu400Ter
XM_011540523.1:c.973G>T (AP4B1) XP_011538825.1:p.Val325Leu
XM_011540524.1:c.973G>T (AP4B1) XP_011538826.1:p.Val325Leu
XM_011540525.1:c.919G>T (AP4B1) XP_011538827.1:p.Val307Leu
XM_011540527.1:c.580G>T (AP4B1) XP_011538829.1:p.Val194Leu
XM_011540528.1:c.223G>T (AP4B1) XP_011538830.1:p.Val75Leu
XR_246227.1:n.1380G>T (AP4B1)
XR_246228.2:n.1608G>T (AP4B1)
XM_011540523.3:c.973G>T (AP4B1) XP_011538825.1:p.Val325Leu
XM_011540525.3:c.919G>T (AP4B1) XP_011538827.1:p.Val307Leu
XM_017000089.2:c.1198G>T (AP4B1) XP_016855578.1:p.Glu400Ter
XM_017000090.1:c.694G>T (AP4B1) XP_016855579.1:p.Val232Leu
XM_017000091.2:c.919G>T (AP4B1) XP_016855580.1:p.Glu307Ter
XM_017000092.2:c.223G>T (AP4B1) XP_016855581.1:p.Val75Leu
XM_017000093.2:c.1198G>T (AP4B1) XP_016855582.1:p.Glu400Ter
XM_024452422.1:c.919G>T (AP4B1) XP_024308190.1:p.Val307Leu
XM_024452423.1:c.1198G>T (AP4B1) XP_024308191.1:p.Glu400Ter
XM_024452435.1:c.973G>T (AP4B1) XP_024308203.1:p.Glu325Ter
XM_024452441.1:c.694G>T (AP4B1) XP_024308209.1:p.Glu232Ter
XR_001736928.2:n.1628G>T (AP4B1)
XR_001736930.2:n.1669G>T (AP4B1)
XR_002958805.1:n.1400G>T (AP4B1)
XR_002958806.1:n.1669G>T (AP4B1)
XR_002958807.1:n.1508G>T (AP4B1)
NM_001253852.3:c.1198G>T (AP4B1) MANE Select NP_001240781.1:p.Val400Leu
NM_001253853.3:c.901G>T (AP4B1) NP_001240782.1:p.Val301Leu
NM_001308312.2:c.694G>T (AP4B1) NP_001295241.1:p.Val232Leu
NM_006594.5:c.1198G>T (AP4B1) NP_006585.2:p.Val400Leu