Canonical Allele Identifier: CA1015632
Community Standard Title: NM_001253852.3(AP4B1):c.2200A>G (p.Ile734Val)
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113895085T>C , CM000663.2:g.113895085T>C GRCh38
NC_000001.10:g.114437707T>C , CM000663.1:g.114437707T>C GRCh37
NC_000001.9:g.114239230T>C NCBI36
NG_031901.1:g.15035A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001253852.3:c.2200A>G (AP4B1) MANE Select NP_001240781.1:p.Ile734Val
ENST00000369569.6:c.2200A>G (AP4B1) MANE Select ENSP00000358582.1:p.Ile734Val
NM_001253852.1:c.2200A>G (AP4B1) NP_001240781.1:p.Ile734Val
NM_001253852.2:c.2200A>G (AP4B1) NP_001240781.1:p.Ile734Val
NM_001253853.1:c.1903A>G (AP4B1) NP_001240782.1:p.Ile635Val
NM_001253853.2:c.1903A>G (AP4B1) NP_001240782.1:p.Ile635Val
NM_001253853.3:c.1903A>G (AP4B1) NP_001240782.1:p.Ile635Val
NM_001308312.1:c.1696A>G (AP4B1) NP_001295241.1:p.Ile566Val
NM_001308312.2:c.1696A>G (AP4B1) NP_001295241.1:p.Ile566Val
NM_006594.3:c.2200A>G (AP4B1) NP_006585.2:p.Ile734Val
NM_006594.4:c.2200A>G (AP4B1) NP_006585.2:p.Ile734Val
NM_006594.5:c.2200A>G (AP4B1) NP_006585.2:p.Ile734Val
NR_037864.1:n.247-2783T>C (AP4B1-AS1)
NR_125965.1:n.415-2783T>C (AP4B1-AS1)
ENST00000256658.8:c.2200A>G (AP4B1) ENSP00000256658.4:p.Ile734Val
ENST00000369564.6:c.1975A>G (AP4B1) ENSP00000358577.2:p.Ile659Val
ENST00000369567.5:c.1696A>G (AP4B1) ENSP00000358580.1:p.Ile566Val
ENST00000369567.6:c.1696A>G (AP4B1) ENSP00000358580.1:p.Ile566Val
ENST00000369569.5:c.2200A>G (AP4B1) ENSP00000358582.1:p.Ile734Val
ENST00000369571.3:c.2200A>G (AP4B1) ENSP00000358584.3:p.Ile734Val
ENST00000432415.6:c.1696A>G (AP4B1) ENSP00000393622.2:p.Ile566Val
ENST00000460653.2:c.*1270A>G (AP4B1) ENSP00000518881.1:n.*1270A>G
ENST00000462591.1:n.2636A>G (AP4B1)
ENST00000479285.5:n.1911A>G (AP4B1)
ENST00000484201.6:c.*950A>G (AP4B1) ENSP00000518883.1:n.*950A>G
ENST00000489499.6:c.*1542A>G (AP4B1) ENSP00000518882.1:n.*1542A>G
ENST00000713588.1:c.*1311A>G (AP4B1) ENSP00000518880.1:n.*1311A>G
ENST00000713590.1:c.2200A>G (AP4B1) ENSP00000518886.1:p.Ile734Val
XM_005270381.2:c.1888A>G (AP4B1) XP_005270438.1:p.Ile630Val
XM_011540523.1:c.1975A>G (AP4B1) XP_011538825.1:p.Ile659Val
XM_011540523.3:c.1975A>G (AP4B1) XP_011538825.1:p.Ile659Val
XM_011540524.1:c.1975A>G (AP4B1) XP_011538826.1:p.Ile659Val
XM_011540525.1:c.1921A>G (AP4B1) XP_011538827.1:p.Ile641Val
XM_011540525.3:c.1921A>G (AP4B1) XP_011538827.1:p.Ile641Val
XM_011540527.1:c.1582A>G (AP4B1) XP_011538829.1:p.Ile528Val
XM_011540528.1:c.1225A>G (AP4B1) XP_011538830.1:p.Ile409Val
XM_017000089.2:c.1888A>G (AP4B1) XP_016855578.1:p.Ile630Val
XM_017000090.1:c.1696A>G (AP4B1) XP_016855579.1:p.Ile566Val
XM_017000091.2:c.1609A>G (AP4B1) XP_016855580.1:p.Ile537Val
XM_017000092.2:c.1225A>G (AP4B1) XP_016855581.1:p.Ile409Val
XM_024452422.1:c.1921A>G (AP4B1) XP_024308190.1:p.Ile641Val
XM_024452423.1:c.1888A>G (AP4B1) XP_024308191.1:p.Ile630Val
XM_024452435.1:c.1663A>G (AP4B1) XP_024308203.1:p.Ile555Val
XM_024452441.1:c.1384A>G (AP4B1) XP_024308209.1:p.Ile462Val
XR_001736928.2:n.2630A>G (AP4B1)
XR_001736930.2:n.2774A>G (AP4B1)
XR_002958805.1:n.2194A>G (AP4B1)
XR_002958806.1:n.2671A>G (AP4B1)
XR_002958807.1:n.2729A>G (AP4B1)
XR_246227.1:n.2174A>G (AP4B1)