Canonical Allele Identifier: CA171108
Gene: AP4B1 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 157718
dbSNP Id: rs1217401

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113896329A>G , CM000663.2:g.113896329A>G GRCh38
NC_000001.9:g.114240474A>G NCBI36
NC_000001.10:g.114438951A>G , CM000663.1:g.114438951A>G GRCh37
NG_031901.1:g.13791T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000256658.8:c.1439T>C ENSP00000256658.4:p.Leu480Ser
ENST00000369567.5:c.935T>C ENSP00000358580.1:p.Leu312Ser
ENST00000369569.5:c.1439T>C ENSP00000358582.1:p.Leu480Ser
ENST00000462591.1:n.1611T>C
ENST00000479285.5:n.667T>C
ENST00000479801.1:n.273T>C
NM_001253852.1:c.1439T>C (AP4B1) VV
NM_001253852.2:c.1439T>C (AP4B1) VV NP_001240781.1:p.Leu480Ser
NM_001253853.1:c.1142T>C (AP4B1) VV
NM_001253853.2:c.1142T>C (AP4B1) VV NP_001240782.1:p.Leu381Ser
NM_001308312.1:c.935T>C (AP4B1) VV NP_001295241.1:p.Leu312Ser
NM_006594.3:c.1439T>C (AP4B1) VV
NM_006594.4:c.1439T>C (AP4B1) VV NP_006585.2:p.Leu480Ser
NR_037864.1:n.247-1539A>G (AP4B1-AS1)
NR_125965.1:n.415-1539A>G (AP4B1-AS1)
XM_005270381.2:c.1199-291T>C (AP4B1) XP_005270438.1:p.=
XM_011540523.1:c.1214T>C (AP4B1) XP_011538825.1:p.Leu405Ser
XM_011540524.1:c.1214T>C (AP4B1) XP_011538826.1:p.Leu405Ser
XM_011540525.1:c.1160T>C (AP4B1) XP_011538827.1:p.Leu387Ser
XM_011540527.1:c.821T>C (AP4B1) XP_011538829.1:p.Leu274Ser
XM_011540528.1:c.464T>C (AP4B1) XP_011538830.1:p.Leu155Ser
XR_246227.1:n.1485-291T>C (AP4B1)
XM_011540523.3:c.1214T>C (AP4B1)
XM_011540525.3:c.1160T>C (AP4B1)
XM_017000089.2:c.1199-291T>C (AP4B1) XP_016855578.1:p.=
XM_017000090.1:c.935T>C (AP4B1) XP_016855579.1:p.Leu312Ser
XM_017000091.2:c.920-291T>C (AP4B1) XP_016855580.1:p.=
XM_017000092.2:c.464T>C (AP4B1) XP_016855581.1:p.Leu155Ser
XM_024452422.1:c.1160T>C (AP4B1) XP_024308190.1:p.Leu387Ser
XM_024452423.1:c.1199-291T>C (AP4B1) XP_024308191.1:p.=
XM_024452435.1:c.974-291T>C (AP4B1) XP_024308203.1:p.=
XM_024452441.1:c.695-291T>C (AP4B1) XP_024308209.1:p.=
XR_001736928.2:n.1869T>C (AP4B1)
XR_001736930.2:n.2013T>C (AP4B1)
XR_002958805.1:n.1505-291T>C (AP4B1)
XR_002958806.1:n.1910T>C (AP4B1)
XR_002958807.1:n.1749T>C (AP4B1)