Canonical Allele Identifier: CA343264504

Gene: COPA NHLH1

Linked Data

• ClinVar Variation Id: 1408159
• ClinVar RCV Id: RCV001909828
• dbSNP Id: rs2101847465
• MyVariant Identifiers: chr1:g.160283897A>T (hg19) ; chr1:g.160314107A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160314107A>T , CM000663.2:g.160314107A>T	GRCh38
NC_000001.10:g.160283897A>T , CM000663.1:g.160283897A>T	GRCh37
NC_000001.9:g.158550521A>T	NCBI36
NG_050927.1:g.34458T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696202.1:n.397T>A (COPA)
ENST00000696203.1:n.3209T>A (COPA)
ENST00000696204.1:n.3416T>A (COPA)
ENST00000696206.1:n.496T>A (COPA)
ENST00000696207.1:n.722T>A (COPA)
ENST00000696208.1:n.828T>A (COPA)
ENST00000696209.1:n.1121T>A (COPA)
ENST00000696210.1:n.1121T>A (COPA)
ENST00000696211.1:n.1121T>A (COPA)
ENST00000696212.1:n.3409T>A (COPA)
ENST00000696213.1:n.1852T>A (COPA)
ENST00000696214.1:n.3435T>A (COPA)
ENST00000696215.1:n.828T>A (COPA)
ENST00000241704.8:c.725T>A (COPA) MANE Select	ENSP00000241704.7:p.Val242Asp
ENST00000647683.1:c.725T>A (COPA)	ENSP00000497495.1:p.Val242Asp
ENST00000647693.1:n.1809T>A (COPA)
ENST00000647799.1:c.*162T>A (COPA)	ENSP00000497970.1:n.*162T>A
ENST00000647899.1:c.244T>A (COPA)
ENST00000648501.1:c.316-940T>A (COPA)
ENST00000648805.1:c.725T>A (COPA)	ENSP00000497433.1:p.Val242Asp
ENST00000649231.1:c.725T>A (COPA)	ENSP00000498061.1:p.Val242Asp
ENST00000649676.1:c.272T>A (COPA)	ENSP00000497257.1:p.Val91Asp
ENST00000649787.1:c.725T>A (COPA)	ENSP00000497231.1:p.Val242Asp
ENST00000649963.1:c.*414T>A (COPA)	ENSP00000498129.1:n.*414T>A
ENST00000650154.1:c.*162T>A (COPA)	ENSP00000497094.1:n.*162T>A
ENST00000241704.7:c.725T>A (COPA)	ENSP00000241704.7:p.Val242Asp
ENST00000368069.7:c.725T>A (COPA)	ENSP00000357048.3:p.Val242Asp
NM_001098398.1:c.725T>A (COPA)	NP_001091868.1:p.Val242Asp
NM_004371.3:c.725T>A (COPA)	NP_004362.2:p.Val242Asp
XM_011509584.1:c.-176+27516A>T (NHLH1)	XP_011507886.1:n.-176+27516A>T
NM_001098398.2:c.725T>A (COPA)	NP_001091868.1:p.Val242Asp
NM_004371.4:c.725T>A (COPA) MANE Select	NP_004362.2:p.Val242Asp