Canonical Allele Identifier: CA10173564

Gene: AP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29362974G>T , CM000684.2:g.29362974G>T	GRCh38
NC_000022.10:g.29758963G>T , CM000684.1:g.29758963G>T	GRCh37
NC_000022.9:g.28088963G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001127.4:c.143+27C>A MANE Select	NP_001118.3:n.143+27C>A
ENST00000357586.7:c.143+27C>A MANE Select	ENSP00000350199.2:n.143+27C>A
NM_001127.3:c.143+27C>A	NP_001118.3:n.143+27C>A
NM_001166019.1:c.143+27C>A	NP_001159491.1:n.143+27C>A
NM_001166019.2:c.143+27C>A	NP_001159491.1:n.143+27C>A
NM_001378562.1:c.143+27C>A	NP_001365491.1:n.143+27C>A
NM_001378563.1:c.143+27C>A	NP_001365492.1:n.143+27C>A
NM_001378564.1:c.-28-3015C>A	NP_001365493.1:n.-28-3015C>A
NM_001378565.1:c.-28-3015C>A	NP_001365494.1:n.-28-3015C>A
NM_001378566.1:c.143+27C>A	NP_001365495.1:n.143+27C>A
NM_145730.2:c.143+27C>A	NP_663782.2:n.143+27C>A
NM_145730.3:c.143+27C>A	NP_663782.2:n.143+27C>A
ENST00000317368.11:c.143+27C>A	ENSP00000319361.7:n.143+27C>A
ENST00000357586.6:c.143+27C>A	ENSP00000350199.2:n.143+27C>A
ENST00000402502.5:c.143+27C>A	ENSP00000386071.1:n.143+27C>A
ENST00000405198.5:c.143+27C>A	ENSP00000384194.1:n.143+27C>A
ENST00000405198.6:c.143+27C>A	ENSP00000384194.2:n.143+27C>A
ENST00000415447.5:c.144-3015C>A	ENSP00000387612.1:n.144-3015C>A
ENST00000421126.5:c.143+27C>A	ENSP00000400022.1:n.143+27C>A
ENST00000432560.6:c.143+27C>A	ENSP00000400065.2:n.143+27C>A
ENST00000473606.1:n.273+27C>A
XR_938146.1:n.1232+1777G>T