Canonical Allele Identifier: CA360332093

Gene: AP3B1

Linked Data

• MyVariant Identifiers: chr5:g.77334982C>G (hg19) ; chr5:g.78039158C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039158C>G , CM000667.2:g.78039158C>G	GRCh38
NC_000005.9:g.77334982C>G , CM000667.1:g.77334982C>G	GRCh37
NC_000005.8:g.77370738C>G	NCBI36
NG_007268.1:g.260547G>C , LRG_170:g.260547G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2547G>C	ENSP00000430597.1:p.Lys849Asn
ENST00000523204.2:n.494G>C
ENST00000695447.1:c.2587G>C	ENSP00000511917.1:n.2587G>C
ENST00000695450.1:c.1893G>C	ENSP00000511919.1:p.Lys631Asn
ENST00000695451.1:c.*2456G>C	ENSP00000511920.1:n.*2456G>C
ENST00000695453.1:c.2637G>C	ENSP00000511921.1:p.Lys879Asn
ENST00000695454.1:c.2688G>C	ENSP00000511922.1:p.Lys896Asn
ENST00000695455.1:c.2547G>C	ENSP00000511923.1:p.Lys849Asn
ENST00000695458.1:n.409G>C
ENST00000695488.1:c.2694G>C	ENSP00000511959.1:p.Lys898Asn
ENST00000695505.1:n.2852G>C
ENST00000695506.1:n.346G>C
ENST00000695507.1:c.*219G>C	ENSP00000511970.1:n.*219G>C
ENST00000695510.1:c.2694G>C	ENSP00000511973.1:p.Lys898Asn
ENST00000695511.1:c.2694G>C	ENSP00000511974.1:p.Lys898Asn
ENST00000695512.1:c.2514G>C	ENSP00000511975.1:p.Lys838Asn
ENST00000695513.1:c.2559G>C	ENSP00000511976.1:p.Lys853Asn
ENST00000695515.1:c.2694G>C	ENSP00000511978.1:p.Lys898Asn
ENST00000255194.11:c.2694G>C MANE Select	ENSP00000255194.7:p.Lys898Asn
ENST00000255194.10:c.2694G>C	ENSP00000255194.6:p.Lys898Asn
ENST00000519295.5:c.2547G>C	ENSP00000430597.1:p.Lys849Asn
ENST00000523204.1:n.494G>C
NM_001271769.1:c.2547G>C	NP_001258698.1:p.Lys849Asn
NM_003664.4:c.2694G>C , LRG_170t1:c.2694G>C	NP_003655.3:p.Lys898Asn
XM_005248618.2:c.2694G>C	XP_005248675.1:p.Lys898Asn
XM_005248618.4:c.2694G>C	XP_005248675.1:p.Lys898Asn
XM_017010001.1:c.2547G>C	XP_016865490.1:p.Lys849Asn
NM_001271769.2:c.2547G>C	NP_001258698.1:p.Lys849Asn
NM_003664.5:c.2694G>C MANE Select	NP_003655.3:p.Lys898Asn