Canonical Allele Identifier: CA379744996

Gene: COPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14483031C>A , CM000673.2:g.14483031C>A	GRCh38
NC_000011.9:g.14504577C>A , CM000673.1:g.14504577C>A	GRCh37
NC_000011.8:g.14461153C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001144061.2:c.957+1G>T MANE Select	NP_001137533.1:n.957+1G>T
ENST00000439561.7:c.957+1G>T MANE Select	ENSP00000397873.2:n.957+1G>T
NM_001144061.1:c.957+1G>T	NP_001137533.1:n.957+1G>T
NM_001144062.1:c.957+1G>T	NP_001137534.1:n.957+1G>T
NM_001144062.2:c.957+1G>T	NP_001137534.1:n.957+1G>T
NM_016451.4:c.957+1G>T	NP_057535.1:n.957+1G>T
NM_016451.5:c.957+1G>T	NP_057535.1:n.957+1G>T
ENST00000249923.7:c.957+1G>T	ENSP00000249923.3:n.957+1G>T
ENST00000439561.6:c.957+1G>T	ENSP00000397873.2:n.957+1G>T
ENST00000534234.5:c.957+1G>T	ENSP00000436383.1:n.957+1G>T