Canonical Allele Identifier: CA10172830

Gene: AP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29331852C>A , CM000684.2:g.29331852C>A	GRCh38
NC_000022.10:g.29727841C>A , CM000684.1:g.29727841C>A	GRCh37
NC_000022.9:g.28057841C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001127.4:c.2374G>T MANE Select	NP_001118.3:p.Glu792Ter
ENST00000357586.7:c.2374G>T MANE Select	ENSP00000350199.2:p.Glu792Ter
NM_001127.3:c.2374G>T	NP_001118.3:p.Glu792Ter
NM_001166019.1:c.2293G>T	NP_001159491.1:p.Glu765Ter
NM_001166019.2:c.2293G>T	NP_001159491.1:p.Glu765Ter
NM_001378562.1:c.2374G>T	NP_001365491.1:p.Glu792Ter
NM_001378563.1:c.2353G>T	NP_001365492.1:p.Glu785Ter
NM_001378564.1:c.2203G>T	NP_001365493.1:p.Glu735Ter
NM_001378565.1:c.2182G>T	NP_001365494.1:p.Glu728Ter
NM_001378566.1:c.2167G>T	NP_001365495.1:p.Glu723Ter
NM_145730.2:c.2353G>T	NP_663782.2:p.Glu785Ter
NM_145730.3:c.2353G>T	NP_663782.2:p.Glu785Ter
ENST00000317368.11:c.2293G>T	ENSP00000319361.7:p.Glu765Ter
ENST00000357586.6:c.2374G>T	ENSP00000350199.2:p.Glu792Ter
ENST00000402502.5:c.2353G>T	ENSP00000386071.1:p.Glu785Ter
ENST00000405198.5:c.2374G>T	ENSP00000384194.1:p.Glu792Ter
ENST00000405198.6:c.2353G>T	ENSP00000384194.2:p.Glu785Ter
ENST00000415447.5:c.2353G>T	ENSP00000387612.1:p.Glu785Ter
ENST00000432560.6:c.2353G>T	ENSP00000400065.2:p.Glu785Ter
ENST00000472057.1:n.537G>T
ENST00000482818.1:n.470G>T