Canonical Allele Identifier: CA341709316
Community Standard Title: NM_001253852.3(AP4B1):c.1571T>C (p.Val524Ala)
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113895978A>G , CM000663.2:g.113895978A>G GRCh38
NC_000001.10:g.114438600A>G , CM000663.1:g.114438600A>G GRCh37
NC_000001.9:g.114240123A>G NCBI36
NG_031901.1:g.14142T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001253852.3:c.1571T>C (AP4B1) MANE Select NP_001240781.1:p.Val524Ala
ENST00000369569.6:c.1571T>C (AP4B1) MANE Select ENSP00000358582.1:p.Val524Ala
NM_001253852.1:c.1571T>C (AP4B1) NP_001240781.1:p.Val524Ala
NM_001253852.2:c.1571T>C (AP4B1) NP_001240781.1:p.Val524Ala
NM_001253853.1:c.1274T>C (AP4B1) NP_001240782.1:p.Val425Ala
NM_001253853.2:c.1274T>C (AP4B1) NP_001240782.1:p.Val425Ala
NM_001253853.3:c.1274T>C (AP4B1) NP_001240782.1:p.Val425Ala
NM_001308312.1:c.1067T>C (AP4B1) NP_001295241.1:p.Val356Ala
NM_001308312.2:c.1067T>C (AP4B1) NP_001295241.1:p.Val356Ala
NM_006594.3:c.1571T>C (AP4B1) NP_006585.2:p.Val524Ala
NM_006594.4:c.1571T>C (AP4B1) NP_006585.2:p.Val524Ala
NM_006594.5:c.1571T>C (AP4B1) NP_006585.2:p.Val524Ala
NR_037864.1:n.247-1890A>G (AP4B1-AS1)
NR_125965.1:n.415-1890A>G (AP4B1-AS1)
ENST00000256658.8:c.1571T>C (AP4B1) ENSP00000256658.4:p.Val524Ala
ENST00000369564.6:c.1346T>C (AP4B1) ENSP00000358577.2:p.Val449Ala
ENST00000369567.5:c.1067T>C (AP4B1) ENSP00000358580.1:p.Val356Ala
ENST00000369567.6:c.1067T>C (AP4B1) ENSP00000358580.1:p.Val356Ala
ENST00000369569.5:c.1571T>C (AP4B1) ENSP00000358582.1:p.Val524Ala
ENST00000369571.3:c.1571T>C (AP4B1) ENSP00000358584.3:p.Val524Ala
ENST00000432415.6:c.1067T>C (AP4B1) ENSP00000393622.2:p.Val356Ala
ENST00000460653.2:c.*641T>C (AP4B1) ENSP00000518881.1:n.*641T>C
ENST00000462591.1:n.1743T>C (AP4B1)
ENST00000479285.5:n.1018T>C (AP4B1)
ENST00000484201.6:c.*321T>C (AP4B1) ENSP00000518883.1:n.*321T>C
ENST00000489499.6:c.*913T>C (AP4B1) ENSP00000518882.1:n.*913T>C
ENST00000713588.1:c.*682T>C (AP4B1) ENSP00000518880.1:n.*682T>C
ENST00000713590.1:c.1571T>C (AP4B1) ENSP00000518886.1:p.Val524Ala
XM_005270381.2:c.1259T>C (AP4B1) XP_005270438.1:p.Val420Ala
XM_011540523.1:c.1346T>C (AP4B1) XP_011538825.1:p.Val449Ala
XM_011540523.3:c.1346T>C (AP4B1) XP_011538825.1:p.Val449Ala
XM_011540524.1:c.1346T>C (AP4B1) XP_011538826.1:p.Val449Ala
XM_011540525.1:c.1292T>C (AP4B1) XP_011538827.1:p.Val431Ala
XM_011540525.3:c.1292T>C (AP4B1) XP_011538827.1:p.Val431Ala
XM_011540527.1:c.953T>C (AP4B1) XP_011538829.1:p.Val318Ala
XM_011540528.1:c.596T>C (AP4B1) XP_011538830.1:p.Val199Ala
XM_017000089.2:c.1259T>C (AP4B1) XP_016855578.1:p.Val420Ala
XM_017000090.1:c.1067T>C (AP4B1) XP_016855579.1:p.Val356Ala
XM_017000091.2:c.980T>C (AP4B1) XP_016855580.1:p.Val327Ala
XM_017000092.2:c.596T>C (AP4B1) XP_016855581.1:p.Val199Ala
XM_024452422.1:c.1292T>C (AP4B1) XP_024308190.1:p.Val431Ala
XM_024452423.1:c.1259T>C (AP4B1) XP_024308191.1:p.Val420Ala
XM_024452435.1:c.1034T>C (AP4B1) XP_024308203.1:p.Val345Ala
XM_024452441.1:c.755T>C (AP4B1) XP_024308209.1:p.Val252Ala
XR_001736928.2:n.2001T>C (AP4B1)
XR_001736930.2:n.2145T>C (AP4B1)
XR_002958805.1:n.1565T>C (AP4B1)
XR_002958806.1:n.2042T>C (AP4B1)
XR_002958807.1:n.2100T>C (AP4B1)
XR_246227.1:n.1545T>C (AP4B1)