Canonical Allele Identifier: CA343264523

Gene: COPA NHLH1

Linked Data

• ClinVar Variation Id: 576697
• ClinVar RCV Id: RCV000699254
• dbSNP Id: rs1557868201
• MyVariant Identifiers: chr1:g.160283900T>G (hg19) ; chr1:g.160314110T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160314110T>G , CM000663.2:g.160314110T>G	GRCh38
NC_000001.10:g.160283900T>G , CM000663.1:g.160283900T>G	GRCh37
NC_000001.9:g.158550524T>G	NCBI36
NG_050927.1:g.34455A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696202.1:n.394A>C (COPA)
ENST00000696203.1:n.3206A>C (COPA)
ENST00000696204.1:n.3413A>C (COPA)
ENST00000696206.1:n.493A>C (COPA)
ENST00000696207.1:n.719A>C (COPA)
ENST00000696208.1:n.825A>C (COPA)
ENST00000696209.1:n.1118A>C (COPA)
ENST00000696210.1:n.1118A>C (COPA)
ENST00000696211.1:n.1118A>C (COPA)
ENST00000696212.1:n.3406A>C (COPA)
ENST00000696213.1:n.1849A>C (COPA)
ENST00000696214.1:n.3432A>C (COPA)
ENST00000696215.1:n.825A>C (COPA)
ENST00000241704.8:c.722A>C (COPA) MANE Select	ENSP00000241704.7:p.Glu241Ala
ENST00000647683.1:c.722A>C (COPA)	ENSP00000497495.1:p.Glu241Ala
ENST00000647693.1:n.1806A>C (COPA)
ENST00000647799.1:c.*159A>C (COPA)	ENSP00000497970.1:n.*159A>C
ENST00000647899.1:c.241A>C (COPA)
ENST00000648501.1:c.316-943A>C (COPA)
ENST00000648805.1:c.722A>C (COPA)	ENSP00000497433.1:p.Glu241Ala
ENST00000649231.1:c.722A>C (COPA)	ENSP00000498061.1:p.Glu241Ala
ENST00000649676.1:c.269A>C (COPA)	ENSP00000497257.1:p.Glu90Ala
ENST00000649787.1:c.722A>C (COPA)	ENSP00000497231.1:p.Glu241Ala
ENST00000649963.1:c.*411A>C (COPA)	ENSP00000498129.1:n.*411A>C
ENST00000650154.1:c.*159A>C (COPA)	ENSP00000497094.1:n.*159A>C
ENST00000241704.7:c.722A>C (COPA)	ENSP00000241704.7:p.Glu241Ala
ENST00000368069.7:c.722A>C (COPA)	ENSP00000357048.3:p.Glu241Ala
NM_001098398.1:c.722A>C (COPA)	NP_001091868.1:p.Glu241Ala
NM_004371.3:c.722A>C (COPA)	NP_004362.2:p.Glu241Ala
XM_011509584.1:c.-176+27519T>G (NHLH1)	XP_011507886.1:n.-176+27519T>G
NM_001098398.2:c.722A>C (COPA)	NP_001091868.1:p.Glu241Ala
NM_004371.4:c.722A>C (COPA) MANE Select	NP_004362.2:p.Glu241Ala