Canonical Allele Identifier: CA360331924

Gene: AP3B1

Linked Data

• MyVariant Identifiers: chr5:g.77334908T>C (hg19) ; chr5:g.78039084T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039084T>C , CM000667.2:g.78039084T>C	GRCh38
NC_000005.9:g.77334908T>C , CM000667.1:g.77334908T>C	GRCh37
NC_000005.8:g.77370664T>C	NCBI36
NG_007268.1:g.260621A>G , LRG_170:g.260621A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2621A>G	ENSP00000430597.1:p.Lys874Arg
ENST00000523204.2:n.568A>G
ENST00000695447.1:c.2661A>G	ENSP00000511917.1:n.2661A>G
ENST00000695450.1:c.1967A>G	ENSP00000511919.1:p.Lys656Arg
ENST00000695451.1:c.*2530A>G	ENSP00000511920.1:n.*2530A>G
ENST00000695453.1:c.2711A>G	ENSP00000511921.1:p.Lys904Arg
ENST00000695454.1:c.2762A>G	ENSP00000511922.1:p.Lys921Arg
ENST00000695455.1:c.2621A>G	ENSP00000511923.1:p.Lys874Arg
ENST00000695458.1:n.483A>G
ENST00000695488.1:c.2768A>G	ENSP00000511959.1:p.Lys923Arg
ENST00000695505.1:n.2926A>G
ENST00000695506.1:n.420A>G
ENST00000695507.1:c.*293A>G	ENSP00000511970.1:n.*293A>G
ENST00000695510.1:c.2768A>G	ENSP00000511973.1:p.Lys923Arg
ENST00000695511.1:c.2768A>G	ENSP00000511974.1:p.Lys923Arg
ENST00000695512.1:c.2588A>G	ENSP00000511975.1:p.Lys863Arg
ENST00000695513.1:c.2633A>G	ENSP00000511976.1:p.Lys878Arg
ENST00000695515.1:c.2768A>G	ENSP00000511978.1:p.Lys923Arg
ENST00000255194.11:c.2768A>G MANE Select	ENSP00000255194.7:p.Lys923Arg
ENST00000255194.10:c.2768A>G	ENSP00000255194.6:p.Lys923Arg
ENST00000519295.5:c.2621A>G	ENSP00000430597.1:p.Lys874Arg
ENST00000522901.1:c.67A>G
ENST00000523204.1:n.568A>G
NM_001271769.1:c.2621A>G	NP_001258698.1:p.Lys874Arg
NM_003664.4:c.2768A>G , LRG_170t1:c.2768A>G	NP_003655.3:p.Lys923Arg
XM_005248618.2:c.2768A>G	XP_005248675.1:p.Lys923Arg
XM_005248618.4:c.2768A>G	XP_005248675.1:p.Lys923Arg
XM_017010001.1:c.2621A>G	XP_016865490.1:p.Lys874Arg
NM_001271769.2:c.2621A>G	NP_001258698.1:p.Lys874Arg
NM_003664.5:c.2768A>G MANE Select	NP_003655.3:p.Lys923Arg