Canonical Allele Identifier: CA360332056

Gene: AP3B1

Linked Data

• MyVariant Identifiers: chr5:g.77334966T>G (hg19) ; chr5:g.78039142T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039142T>G , CM000667.2:g.78039142T>G	GRCh38
NC_000005.9:g.77334966T>G , CM000667.1:g.77334966T>G	GRCh37
NC_000005.8:g.77370722T>G	NCBI36
NG_007268.1:g.260563A>C , LRG_170:g.260563A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2563A>C	ENSP00000430597.1:p.Ile855Leu
ENST00000523204.2:n.510A>C
ENST00000695447.1:c.2603A>C	ENSP00000511917.1:n.2603A>C
ENST00000695450.1:c.1909A>C	ENSP00000511919.1:p.Ile637Leu
ENST00000695451.1:c.*2472A>C	ENSP00000511920.1:n.*2472A>C
ENST00000695453.1:c.2653A>C	ENSP00000511921.1:p.Ile885Leu
ENST00000695454.1:c.2704A>C	ENSP00000511922.1:p.Ile902Leu
ENST00000695455.1:c.2563A>C	ENSP00000511923.1:p.Ile855Leu
ENST00000695458.1:n.425A>C
ENST00000695488.1:c.2710A>C	ENSP00000511959.1:p.Ile904Leu
ENST00000695505.1:n.2868A>C
ENST00000695506.1:n.362A>C
ENST00000695507.1:c.*235A>C	ENSP00000511970.1:n.*235A>C
ENST00000695510.1:c.2710A>C	ENSP00000511973.1:p.Ile904Leu
ENST00000695511.1:c.2710A>C	ENSP00000511974.1:p.Ile904Leu
ENST00000695512.1:c.2530A>C	ENSP00000511975.1:p.Ile844Leu
ENST00000695513.1:c.2575A>C	ENSP00000511976.1:p.Ile859Leu
ENST00000695515.1:c.2710A>C	ENSP00000511978.1:p.Ile904Leu
ENST00000255194.11:c.2710A>C MANE Select	ENSP00000255194.7:p.Ile904Leu
ENST00000255194.10:c.2710A>C	ENSP00000255194.6:p.Ile904Leu
ENST00000519295.5:c.2563A>C	ENSP00000430597.1:p.Ile855Leu
ENST00000522901.1:c.9A>C
ENST00000523204.1:n.510A>C
NM_001271769.1:c.2563A>C	NP_001258698.1:p.Ile855Leu
NM_003664.4:c.2710A>C , LRG_170t1:c.2710A>C	NP_003655.3:p.Ile904Leu
XM_005248618.2:c.2710A>C	XP_005248675.1:p.Ile904Leu
XM_005248618.4:c.2710A>C	XP_005248675.1:p.Ile904Leu
XM_017010001.1:c.2563A>C	XP_016865490.1:p.Ile855Leu
NM_001271769.2:c.2563A>C	NP_001258698.1:p.Ile855Leu
NM_003664.5:c.2710A>C MANE Select	NP_003655.3:p.Ile904Leu