Canonical Allele Identifier: CA343263535

Gene: COPA NHLH1

Linked Data

• MyVariant Identifiers: chr1:g.160283787A>T (hg19) ; chr1:g.160313997A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313997A>T , CM000663.2:g.160313997A>T	GRCh38
NC_000001.10:g.160283787A>T , CM000663.1:g.160283787A>T	GRCh37
NC_000001.9:g.158550411A>T	NCBI36
NG_050927.1:g.34568T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.507T>A (COPA)
ENST00000696203.1:n.3319T>A (COPA)
ENST00000696204.1:n.3526T>A (COPA)
ENST00000696206.1:n.606T>A (COPA)
ENST00000696207.1:n.832T>A (COPA)
ENST00000696208.1:n.938T>A (COPA)
ENST00000696209.1:n.1231T>A (COPA)
ENST00000696210.1:n.1231T>A (COPA)
ENST00000696211.1:n.1231T>A (COPA)
ENST00000696212.1:n.3519T>A (COPA)
ENST00000696213.1:n.1962T>A (COPA)
ENST00000696214.1:n.3545T>A (COPA)
ENST00000696215.1:n.938T>A (COPA)
ENST00000241704.8:c.835T>A (COPA) MANE Select	ENSP00000241704.7:p.Ser279Thr
ENST00000647683.1:c.835T>A (COPA)	ENSP00000497495.1:p.Ser279Thr
ENST00000647693.1:n.1919T>A (COPA)
ENST00000647799.1:c.*272T>A (COPA)	ENSP00000497970.1:n.*272T>A
ENST00000647899.1:c.354T>A (COPA)
ENST00000648501.1:c.316-830T>A (COPA)
ENST00000648805.1:c.835T>A (COPA)	ENSP00000497433.1:p.Ser279Thr
ENST00000649231.1:c.835T>A (COPA)	ENSP00000498061.1:p.Ser279Thr
ENST00000649676.1:c.382T>A (COPA)	ENSP00000497257.1:p.Ser128Thr
ENST00000649787.1:c.835T>A (COPA)	ENSP00000497231.1:p.Ser279Thr
ENST00000649963.1:c.*524T>A (COPA)	ENSP00000498129.1:n.*524T>A
ENST00000650154.1:c.*272T>A (COPA)	ENSP00000497094.1:n.*272T>A
ENST00000241704.7:c.835T>A (COPA)	ENSP00000241704.7:p.Ser279Thr
ENST00000368069.7:c.835T>A (COPA)	ENSP00000357048.3:p.Ser279Thr
NM_001098398.1:c.835T>A (COPA)	NP_001091868.1:p.Ser279Thr
NM_004371.3:c.835T>A (COPA)	NP_004362.2:p.Ser279Thr
XM_011509584.1:c.-176+27406A>T (NHLH1)	XP_011507886.1:n.-176+27406A>T
NM_001098398.2:c.835T>A (COPA)	NP_001091868.1:p.Ser279Thr
NM_004371.4:c.835T>A (COPA) MANE Select	NP_004362.2:p.Ser279Thr