Canonical Allele Identifier: CA10172832

Gene: AP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29331877C>T , CM000684.2:g.29331877C>T	GRCh38
NC_000022.10:g.29727866C>T , CM000684.1:g.29727866C>T	GRCh37
NC_000022.9:g.28057866C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357586.7:c.2349G>A MANE Select	ENSP00000350199.2:p.Ala783=
ENST00000405198.6:c.2328G>A	ENSP00000384194.2:p.Ala776=
ENST00000317368.11:c.2268G>A	ENSP00000319361.7:p.Ala756=
ENST00000357586.6:c.2349G>A	ENSP00000350199.2:p.Ala783=
ENST00000402502.5:c.2328G>A	ENSP00000386071.1:p.Ala776=
ENST00000405198.5:c.2349G>A	ENSP00000384194.1:p.Ala783=
ENST00000415447.5:c.2328G>A	ENSP00000387612.1:p.Ala776=
ENST00000432560.6:c.2328G>A	ENSP00000400065.2:p.Ala776=
ENST00000472057.1:n.512G>A
ENST00000482818.1:n.445G>A
NM_001127.3:c.2349G>A	NP_001118.3:p.Ala783=
NM_001166019.1:c.2268G>A	NP_001159491.1:p.Ala756=
NM_145730.2:c.2328G>A	NP_663782.2:p.Ala776=
NM_001166019.2:c.2268G>A	NP_001159491.1:p.Ala756=
NM_001127.4:c.2349G>A MANE Select	NP_001118.3:p.Ala783=
NM_001378562.1:c.2349G>A	NP_001365491.1:p.Ala783=
NM_001378563.1:c.2328G>A	NP_001365492.1:p.Ala776=
NM_001378564.1:c.2178G>A	NP_001365493.1:p.Ala726=
NM_001378565.1:c.2157G>A	NP_001365494.1:p.Ala719=
NM_001378566.1:c.2142G>A	NP_001365495.1:p.Ala714=
NM_145730.3:c.2328G>A	NP_663782.2:p.Ala776=