Canonical Allele Identifier: CA343264544

Gene: COPA NHLH1

Linked Data

• dbSNP Id: rs1336130041
• gnomAD v3: 1-160314116-G-A
• gnomAD v4: 1-160314116-G-A
• MyVariant Identifiers: chr1:g.160283906G>A (hg19) ; chr1:g.160314116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160314116G>A , CM000663.2:g.160314116G>A	GRCh38
NC_000001.10:g.160283906G>A , CM000663.1:g.160283906G>A	GRCh37
NC_000001.9:g.158550530G>A	NCBI36
NG_050927.1:g.34449C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696202.1:n.388C>T (COPA)
ENST00000696203.1:n.3200C>T (COPA)
ENST00000696204.1:n.3407C>T (COPA)
ENST00000696206.1:n.487C>T (COPA)
ENST00000696207.1:n.713C>T (COPA)
ENST00000696208.1:n.819C>T (COPA)
ENST00000696209.1:n.1112C>T (COPA)
ENST00000696210.1:n.1112C>T (COPA)
ENST00000696211.1:n.1112C>T (COPA)
ENST00000696212.1:n.3400C>T (COPA)
ENST00000696213.1:n.1843C>T (COPA)
ENST00000696214.1:n.3426C>T (COPA)
ENST00000696215.1:n.819C>T (COPA)
ENST00000241704.8:c.716C>T (COPA) MANE Select	ENSP00000241704.7:p.Ala239Val
ENST00000647683.1:c.716C>T (COPA)	ENSP00000497495.1:p.Ala239Val
ENST00000647693.1:n.1800C>T (COPA)
ENST00000647799.1:c.*153C>T (COPA)	ENSP00000497970.1:n.*153C>T
ENST00000647899.1:c.235C>T (COPA)
ENST00000648501.1:c.316-949C>T (COPA)
ENST00000648805.1:c.716C>T (COPA)	ENSP00000497433.1:p.Ala239Val
ENST00000649231.1:c.716C>T (COPA)	ENSP00000498061.1:p.Ala239Val
ENST00000649676.1:c.263C>T (COPA)	ENSP00000497257.1:p.Ala88Val
ENST00000649787.1:c.716C>T (COPA)	ENSP00000497231.1:p.Ala239Val
ENST00000649963.1:c.*405C>T (COPA)	ENSP00000498129.1:n.*405C>T
ENST00000650154.1:c.*153C>T (COPA)	ENSP00000497094.1:n.*153C>T
ENST00000241704.7:c.716C>T (COPA)	ENSP00000241704.7:p.Ala239Val
ENST00000368069.7:c.716C>T (COPA)	ENSP00000357048.3:p.Ala239Val
NM_001098398.1:c.716C>T (COPA)	NP_001091868.1:p.Ala239Val
NM_004371.3:c.716C>T (COPA)	NP_004362.2:p.Ala239Val
XM_011509584.1:c.-176+27525G>A (NHLH1)	XP_011507886.1:n.-176+27525G>A
NM_001098398.2:c.716C>T (COPA)	NP_001091868.1:p.Ala239Val
NM_004371.4:c.716C>T (COPA) MANE Select	NP_004362.2:p.Ala239Val