Canonical Allele Identifier: CA445400003

Gene: AP3B1

Linked Data

• MyVariant Identifiers: chr5:g.77335042A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039218A>G , CM000667.2:g.78039218A>G	GRCh38
NC_000005.9:g.77335042A>G , CM000667.1:g.77335042A>G	GRCh37
NC_000005.8:g.77370798A>G	NCBI36
NG_007268.1:g.260487T>C , LRG_170:g.260487T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2487T>C	ENSP00000430597.1:p.Ser829=
ENST00000523204.2:n.434T>C
ENST00000695447.1:c.2527T>C	ENSP00000511917.1:p.Trp843Arg
ENST00000695450.1:c.1833T>C	ENSP00000511919.1:p.Ser611=
ENST00000695451.1:c.*2396T>C	ENSP00000511920.1:n.*2396T>C
ENST00000695453.1:c.2577T>C	ENSP00000511921.1:p.Ser859=
ENST00000695454.1:c.2628T>C	ENSP00000511922.1:p.Ser876=
ENST00000695455.1:c.2487T>C	ENSP00000511923.1:p.Ser829=
ENST00000695458.1:n.349T>C
ENST00000695488.1:c.2634T>C	ENSP00000511959.1:p.Ser878=
ENST00000695505.1:n.2792T>C
ENST00000695506.1:n.286T>C
ENST00000695507.1:c.*159T>C	ENSP00000511970.1:n.*159T>C
ENST00000695510.1:c.2634T>C	ENSP00000511973.1:p.Ser878=
ENST00000695511.1:c.2634T>C	ENSP00000511974.1:p.Ser878=
ENST00000695512.1:c.2454T>C	ENSP00000511975.1:p.Ser818=
ENST00000695513.1:c.2499T>C	ENSP00000511976.1:p.Ser833=
ENST00000695515.1:c.2634T>C	ENSP00000511978.1:p.Ser878=
ENST00000255194.11:c.2634T>C MANE Select	ENSP00000255194.7:p.Ser878=
ENST00000255194.10:c.2634T>C	ENSP00000255194.6:p.Ser878=
ENST00000519295.5:c.2487T>C	ENSP00000430597.1:p.Ser829=
ENST00000523204.1:n.434T>C
NM_001271769.1:c.2487T>C	NP_001258698.1:p.Ser829=
NM_003664.4:c.2634T>C , LRG_170t1:c.2634T>C	NP_003655.3:p.Ser878=
XM_005248618.2:c.2634T>C	XP_005248675.1:p.Ser878=
XM_005248618.4:c.2634T>C	XP_005248675.1:p.Ser878=
XM_017010001.1:c.2487T>C	XP_016865490.1:p.Ser829=
NM_001271769.2:c.2487T>C	NP_001258698.1:p.Ser829=
NM_003664.5:c.2634T>C MANE Select	NP_003655.3:p.Ser878=