Canonical Allele Identifier: CA379741590

Gene: COPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14474581A>C , CM000673.2:g.14474581A>C	GRCh38
NC_000011.9:g.14496127A>C , CM000673.1:g.14496127A>C	GRCh37
NC_000011.8:g.14452703A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001144061.2:c.1651T>G MANE Select	NP_001137533.1:p.Phe551Val
ENST00000439561.7:c.1651T>G MANE Select	ENSP00000397873.2:p.Phe551Val
NM_001144061.1:c.1651T>G	NP_001137533.1:p.Phe551Val
NM_001144062.1:c.1651T>G	NP_001137534.1:p.Phe551Val
NM_001144062.2:c.1651T>G	NP_001137534.1:p.Phe551Val
NM_016451.4:c.1651T>G	NP_057535.1:p.Phe551Val
NM_016451.5:c.1651T>G	NP_057535.1:p.Phe551Val
ENST00000249923.7:c.1651T>G	ENSP00000249923.3:p.Phe551Val
ENST00000439561.6:c.1651T>G	ENSP00000397873.2:p.Phe551Val
ENST00000526191.1:n.126T>G