Canonical Allele Identifier: CA445400105

Gene: AP3B1

Linked Data

• MyVariant Identifiers: chr5:g.77334877A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039053A>G , CM000667.2:g.78039053A>G	GRCh38
NC_000005.9:g.77334877A>G , CM000667.1:g.77334877A>G	GRCh37
NC_000005.8:g.77370633A>G	NCBI36
NG_007268.1:g.260652T>C , LRG_170:g.260652T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2652T>C	ENSP00000430597.1:p.Phe884=
ENST00000523204.2:n.599T>C
ENST00000695447.1:c.2692T>C	ENSP00000511917.1:n.2692T>C
ENST00000695450.1:c.1998T>C	ENSP00000511919.1:p.Phe666=
ENST00000695451.1:c.*2561T>C	ENSP00000511920.1:n.*2561T>C
ENST00000695453.1:c.2742T>C	ENSP00000511921.1:p.Phe914=
ENST00000695454.1:c.2793T>C	ENSP00000511922.1:p.Phe931=
ENST00000695455.1:c.2652T>C	ENSP00000511923.1:p.Phe884=
ENST00000695458.1:n.514T>C
ENST00000695488.1:c.2799T>C	ENSP00000511959.1:p.Phe933=
ENST00000695505.1:n.2957T>C
ENST00000695506.1:n.451T>C
ENST00000695507.1:c.*324T>C	ENSP00000511970.1:n.*324T>C
ENST00000695510.1:c.2799T>C	ENSP00000511973.1:p.Phe933=
ENST00000695511.1:c.2799T>C	ENSP00000511974.1:p.Phe933=
ENST00000695512.1:c.2619T>C	ENSP00000511975.1:p.Phe873=
ENST00000695513.1:c.2664T>C	ENSP00000511976.1:p.Phe888=
ENST00000695515.1:c.2799T>C	ENSP00000511978.1:p.Phe933=
ENST00000255194.11:c.2799T>C MANE Select	ENSP00000255194.7:p.Phe933=
ENST00000255194.10:c.2799T>C	ENSP00000255194.6:p.Phe933=
ENST00000519295.5:c.2652T>C	ENSP00000430597.1:p.Phe884=
ENST00000522901.1:c.98T>C
ENST00000523204.1:n.599T>C
NM_001271769.1:c.2652T>C	NP_001258698.1:p.Phe884=
NM_003664.4:c.2799T>C , LRG_170t1:c.2799T>C	NP_003655.3:p.Phe933=
XM_005248618.2:c.2799T>C	XP_005248675.1:p.Phe933=
XM_005248618.4:c.2799T>C	XP_005248675.1:p.Phe933=
XM_017010001.1:c.2652T>C	XP_016865490.1:p.Phe884=
NM_001271769.2:c.2652T>C	NP_001258698.1:p.Phe884=
NM_003664.5:c.2799T>C MANE Select	NP_003655.3:p.Phe933=