Canonical Allele Identifier: CA343264534

Gene: COPA NHLH1

Linked Data

• MyVariant Identifiers: chr1:g.160283902C>G (hg19) ; chr1:g.160314112C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160314112C>G , CM000663.2:g.160314112C>G	GRCh38
NC_000001.10:g.160283902C>G , CM000663.1:g.160283902C>G	GRCh37
NC_000001.9:g.158550526C>G	NCBI36
NG_050927.1:g.34453G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696202.1:n.392G>C (COPA)
ENST00000696203.1:n.3204G>C (COPA)
ENST00000696204.1:n.3411G>C (COPA)
ENST00000696206.1:n.491G>C (COPA)
ENST00000696207.1:n.717G>C (COPA)
ENST00000696208.1:n.823G>C (COPA)
ENST00000696209.1:n.1116G>C (COPA)
ENST00000696210.1:n.1116G>C (COPA)
ENST00000696211.1:n.1116G>C (COPA)
ENST00000696212.1:n.3404G>C (COPA)
ENST00000696213.1:n.1847G>C (COPA)
ENST00000696214.1:n.3430G>C (COPA)
ENST00000696215.1:n.823G>C (COPA)
ENST00000241704.8:c.720G>C (COPA) MANE Select	ENSP00000241704.7:p.Trp240Cys
ENST00000647683.1:c.720G>C (COPA)	ENSP00000497495.1:p.Trp240Cys
ENST00000647693.1:n.1804G>C (COPA)
ENST00000647799.1:c.*157G>C (COPA)	ENSP00000497970.1:n.*157G>C
ENST00000647899.1:c.239G>C (COPA)
ENST00000648501.1:c.316-945G>C (COPA)
ENST00000648805.1:c.720G>C (COPA)	ENSP00000497433.1:p.Trp240Cys
ENST00000649231.1:c.720G>C (COPA)	ENSP00000498061.1:p.Trp240Cys
ENST00000649676.1:c.267G>C (COPA)	ENSP00000497257.1:p.Trp89Cys
ENST00000649787.1:c.720G>C (COPA)	ENSP00000497231.1:p.Trp240Cys
ENST00000649963.1:c.*409G>C (COPA)	ENSP00000498129.1:n.*409G>C
ENST00000650154.1:c.*157G>C (COPA)	ENSP00000497094.1:n.*157G>C
ENST00000241704.7:c.720G>C (COPA)	ENSP00000241704.7:p.Trp240Cys
ENST00000368069.7:c.720G>C (COPA)	ENSP00000357048.3:p.Trp240Cys
NM_001098398.1:c.720G>C (COPA)	NP_001091868.1:p.Trp240Cys
NM_004371.3:c.720G>C (COPA)	NP_004362.2:p.Trp240Cys
XM_011509584.1:c.-176+27521C>G (NHLH1)	XP_011507886.1:n.-176+27521C>G
NM_001098398.2:c.720G>C (COPA)	NP_001091868.1:p.Trp240Cys
NM_004371.4:c.720G>C (COPA) MANE Select	NP_004362.2:p.Trp240Cys