Canonical Allele Identifier: CA343263421

Gene: COPA NHLH1

Linked Data

• MyVariant Identifiers: chr1:g.160283782C>G (hg19) ; chr1:g.160313992C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313992C>G , CM000663.2:g.160313992C>G	GRCh38
NC_000001.10:g.160283782C>G , CM000663.1:g.160283782C>G	GRCh37
NC_000001.9:g.158550406C>G	NCBI36
NG_050927.1:g.34573G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.512G>C (COPA)
ENST00000696203.1:n.3324G>C (COPA)
ENST00000696204.1:n.3531G>C (COPA)
ENST00000696206.1:n.611G>C (COPA)
ENST00000696207.1:n.837G>C (COPA)
ENST00000696208.1:n.943G>C (COPA)
ENST00000696209.1:n.1236G>C (COPA)
ENST00000696210.1:n.1236G>C (COPA)
ENST00000696211.1:n.1236G>C (COPA)
ENST00000696212.1:n.3524G>C (COPA)
ENST00000696213.1:n.1967G>C (COPA)
ENST00000696214.1:n.3550G>C (COPA)
ENST00000696215.1:n.943G>C (COPA)
ENST00000241704.8:c.840G>C (COPA) MANE Select	ENSP00000241704.7:p.Lys280Asn
ENST00000647683.1:c.840G>C (COPA)	ENSP00000497495.1:p.Lys280Asn
ENST00000647693.1:n.1924G>C (COPA)
ENST00000647799.1:c.*277G>C (COPA)	ENSP00000497970.1:n.*277G>C
ENST00000647899.1:c.359G>C (COPA)
ENST00000648501.1:c.316-825G>C (COPA)
ENST00000648805.1:c.840G>C (COPA)	ENSP00000497433.1:p.Lys280Asn
ENST00000649231.1:c.840G>C (COPA)	ENSP00000498061.1:p.Lys280Asn
ENST00000649676.1:c.387G>C (COPA)	ENSP00000497257.1:p.Lys129Asn
ENST00000649787.1:c.840G>C (COPA)	ENSP00000497231.1:p.Lys280Asn
ENST00000649963.1:c.*529G>C (COPA)	ENSP00000498129.1:n.*529G>C
ENST00000650154.1:c.*277G>C (COPA)	ENSP00000497094.1:n.*277G>C
ENST00000241704.7:c.840G>C (COPA)	ENSP00000241704.7:p.Lys280Asn
ENST00000368069.7:c.840G>C (COPA)	ENSP00000357048.3:p.Lys280Asn
NM_001098398.1:c.840G>C (COPA)	NP_001091868.1:p.Lys280Asn
NM_004371.3:c.840G>C (COPA)	NP_004362.2:p.Lys280Asn
XM_011509584.1:c.-176+27401C>G (NHLH1)	XP_011507886.1:n.-176+27401C>G
NM_001098398.2:c.840G>C (COPA)	NP_001091868.1:p.Lys280Asn
NM_004371.4:c.840G>C (COPA) MANE Select	NP_004362.2:p.Lys280Asn