Canonical Allele Identifier: CA343263466

Gene: COPA NHLH1

Linked Data

• MyVariant Identifiers: chr1:g.160283784T>G (hg19) ; chr1:g.160313994T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313994T>G , CM000663.2:g.160313994T>G	GRCh38
NC_000001.10:g.160283784T>G , CM000663.1:g.160283784T>G	GRCh37
NC_000001.9:g.158550408T>G	NCBI36
NG_050927.1:g.34571A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.510A>C (COPA)
ENST00000696203.1:n.3322A>C (COPA)
ENST00000696204.1:n.3529A>C (COPA)
ENST00000696206.1:n.609A>C (COPA)
ENST00000696207.1:n.835A>C (COPA)
ENST00000696208.1:n.941A>C (COPA)
ENST00000696209.1:n.1234A>C (COPA)
ENST00000696210.1:n.1234A>C (COPA)
ENST00000696211.1:n.1234A>C (COPA)
ENST00000696212.1:n.3522A>C (COPA)
ENST00000696213.1:n.1965A>C (COPA)
ENST00000696214.1:n.3548A>C (COPA)
ENST00000696215.1:n.941A>C (COPA)
ENST00000241704.8:c.838A>C (COPA) MANE Select	ENSP00000241704.7:p.Lys280Gln
ENST00000647683.1:c.838A>C (COPA)	ENSP00000497495.1:p.Lys280Gln
ENST00000647693.1:n.1922A>C (COPA)
ENST00000647799.1:c.*275A>C (COPA)	ENSP00000497970.1:n.*275A>C
ENST00000647899.1:c.357A>C (COPA)
ENST00000648501.1:c.316-827A>C (COPA)
ENST00000648805.1:c.838A>C (COPA)	ENSP00000497433.1:p.Lys280Gln
ENST00000649231.1:c.838A>C (COPA)	ENSP00000498061.1:p.Lys280Gln
ENST00000649676.1:c.385A>C (COPA)	ENSP00000497257.1:p.Lys129Gln
ENST00000649787.1:c.838A>C (COPA)	ENSP00000497231.1:p.Lys280Gln
ENST00000649963.1:c.*527A>C (COPA)	ENSP00000498129.1:n.*527A>C
ENST00000650154.1:c.*275A>C (COPA)	ENSP00000497094.1:n.*275A>C
ENST00000241704.7:c.838A>C (COPA)	ENSP00000241704.7:p.Lys280Gln
ENST00000368069.7:c.838A>C (COPA)	ENSP00000357048.3:p.Lys280Gln
NM_001098398.1:c.838A>C (COPA)	NP_001091868.1:p.Lys280Gln
NM_004371.3:c.838A>C (COPA)	NP_004362.2:p.Lys280Gln
XM_011509584.1:c.-176+27403T>G (NHLH1)	XP_011507886.1:n.-176+27403T>G
NM_001098398.2:c.838A>C (COPA)	NP_001091868.1:p.Lys280Gln
NM_004371.4:c.838A>C (COPA) MANE Select	NP_004362.2:p.Lys280Gln