Canonical Allele Identifier: CA1202267818

Gene: COPA NHLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313998C= , CM000663.2:g.160313998C=	GRCh38
NC_000001.10:g.160283788C= , CM000663.1:g.160283788C=	GRCh37
NC_000001.9:g.158550412C=	NCBI36
NG_050927.1:g.34567G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.506G= (COPA)
ENST00000696203.1:n.3318G= (COPA)
ENST00000696204.1:n.3525G= (COPA)
ENST00000696206.1:n.605G= (COPA)
ENST00000696207.1:n.831G= (COPA)
ENST00000696208.1:n.937G= (COPA)
ENST00000696209.1:n.1230G= (COPA)
ENST00000696210.1:n.1230G= (COPA)
ENST00000696211.1:n.1230G= (COPA)
ENST00000696212.1:n.3518G= (COPA)
ENST00000696213.1:n.1961G= (COPA)
ENST00000696214.1:n.3544G= (COPA)
ENST00000696215.1:n.937G= (COPA)
ENST00000241704.8:c.834G= (COPA) MANE Select	ENSP00000241704.7:p.Met278=
ENST00000647683.1:c.834G= (COPA)	ENSP00000497495.1:p.Met278=
ENST00000647693.1:n.1918G= (COPA)
ENST00000647799.1:c.*271G= (COPA)	ENSP00000497970.1:n.*271G=
ENST00000647899.1:c.353G= (COPA)
ENST00000648501.1:c.316-831G= (COPA)
ENST00000648805.1:c.834G= (COPA)	ENSP00000497433.1:p.Met278=
ENST00000649231.1:c.834G= (COPA)	ENSP00000498061.1:p.Met278=
ENST00000649676.1:c.381G= (COPA)	ENSP00000497257.1:p.Met127=
ENST00000649787.1:c.834G= (COPA)	ENSP00000497231.1:p.Met278=
ENST00000649963.1:c.*523G= (COPA)	ENSP00000498129.1:n.*523G=
ENST00000650154.1:c.*271G= (COPA)	ENSP00000497094.1:n.*271G=
ENST00000241704.7:c.834G= (COPA)	ENSP00000241704.7:p.Met278=
ENST00000368069.7:c.834G= (COPA)	ENSP00000357048.3:p.Met278=
NM_001098398.1:c.834G= (COPA)	NP_001091868.1:p.Met278=
NM_004371.3:c.834G= (COPA)	NP_004362.2:p.Met278=
XM_011509584.1:c.-176+27407C= (NHLH1)	XP_011507886.1:n.-176+27407C=
NM_001098398.2:c.834G= (COPA)	NP_001091868.1:p.Met278=
NM_004371.4:c.834G= (COPA) MANE Select	NP_004362.2:p.Met278=