Canonical Allele Identifier: CA360331965

Gene: AP3B1

Linked Data

• MyVariant Identifiers: chr5:g.77334927T>A (hg19) ; chr5:g.78039103T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039103T>A , CM000667.2:g.78039103T>A	GRCh38
NC_000005.9:g.77334927T>A , CM000667.1:g.77334927T>A	GRCh37
NC_000005.8:g.77370683T>A	NCBI36
NG_007268.1:g.260602A>T , LRG_170:g.260602A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2602A>T	ENSP00000430597.1:p.Ile868Phe
ENST00000523204.2:n.549A>T
ENST00000695447.1:c.2642A>T	ENSP00000511917.1:n.2642A>T
ENST00000695450.1:c.1948A>T	ENSP00000511919.1:p.Ile650Phe
ENST00000695451.1:c.*2511A>T	ENSP00000511920.1:n.*2511A>T
ENST00000695453.1:c.2692A>T	ENSP00000511921.1:p.Ile898Phe
ENST00000695454.1:c.2743A>T	ENSP00000511922.1:p.Ile915Phe
ENST00000695455.1:c.2602A>T	ENSP00000511923.1:p.Ile868Phe
ENST00000695458.1:n.464A>T
ENST00000695488.1:c.2749A>T	ENSP00000511959.1:p.Ile917Phe
ENST00000695505.1:n.2907A>T
ENST00000695506.1:n.401A>T
ENST00000695507.1:c.*274A>T	ENSP00000511970.1:n.*274A>T
ENST00000695510.1:c.2749A>T	ENSP00000511973.1:p.Ile917Phe
ENST00000695511.1:c.2749A>T	ENSP00000511974.1:p.Ile917Phe
ENST00000695512.1:c.2569A>T	ENSP00000511975.1:p.Ile857Phe
ENST00000695513.1:c.2614A>T	ENSP00000511976.1:p.Ile872Phe
ENST00000695515.1:c.2749A>T	ENSP00000511978.1:p.Ile917Phe
ENST00000255194.11:c.2749A>T MANE Select	ENSP00000255194.7:p.Ile917Phe
ENST00000255194.10:c.2749A>T	ENSP00000255194.6:p.Ile917Phe
ENST00000519295.5:c.2602A>T	ENSP00000430597.1:p.Ile868Phe
ENST00000522901.1:c.48A>T
ENST00000523204.1:n.549A>T
NM_001271769.1:c.2602A>T	NP_001258698.1:p.Ile868Phe
NM_003664.4:c.2749A>T , LRG_170t1:c.2749A>T	NP_003655.3:p.Ile917Phe
XM_005248618.2:c.2749A>T	XP_005248675.1:p.Ile917Phe
XM_005248618.4:c.2749A>T	XP_005248675.1:p.Ile917Phe
XM_017010001.1:c.2602A>T	XP_016865490.1:p.Ile868Phe
NM_001271769.2:c.2602A>T	NP_001258698.1:p.Ile868Phe
NM_003664.5:c.2749A>T MANE Select	NP_003655.3:p.Ile917Phe