Canonical Allele Identifier: CA343264564

Gene: COPA NHLH1

Linked Data

• ClinVar Variation Id: 577775
• ClinVar RCV Id: RCV000700608
• dbSNP Id: rs1557868211
• MyVariant Identifiers: chr1:g.160283907C>G (hg19) ; chr1:g.160314117C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160314117C>G , CM000663.2:g.160314117C>G	GRCh38
NC_000001.10:g.160283907C>G , CM000663.1:g.160283907C>G	GRCh37
NC_000001.9:g.158550531C>G	NCBI36
NG_050927.1:g.34448G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696202.1:n.387G>C (COPA)
ENST00000696203.1:n.3199G>C (COPA)
ENST00000696204.1:n.3406G>C (COPA)
ENST00000696206.1:n.486G>C (COPA)
ENST00000696207.1:n.712G>C (COPA)
ENST00000696208.1:n.818G>C (COPA)
ENST00000696209.1:n.1111G>C (COPA)
ENST00000696210.1:n.1111G>C (COPA)
ENST00000696211.1:n.1111G>C (COPA)
ENST00000696212.1:n.3399G>C (COPA)
ENST00000696213.1:n.1842G>C (COPA)
ENST00000696214.1:n.3425G>C (COPA)
ENST00000696215.1:n.818G>C (COPA)
ENST00000241704.8:c.715G>C (COPA) MANE Select	ENSP00000241704.7:p.Ala239Pro
ENST00000647683.1:c.715G>C (COPA)	ENSP00000497495.1:p.Ala239Pro
ENST00000647693.1:n.1799G>C (COPA)
ENST00000647799.1:c.*152G>C (COPA)	ENSP00000497970.1:n.*152G>C
ENST00000647899.1:c.234G>C (COPA)
ENST00000648501.1:c.316-950G>C (COPA)
ENST00000648805.1:c.715G>C (COPA)	ENSP00000497433.1:p.Ala239Pro
ENST00000649231.1:c.715G>C (COPA)	ENSP00000498061.1:p.Ala239Pro
ENST00000649676.1:c.262G>C (COPA)	ENSP00000497257.1:p.Ala88Pro
ENST00000649787.1:c.715G>C (COPA)	ENSP00000497231.1:p.Ala239Pro
ENST00000649963.1:c.*404G>C (COPA)	ENSP00000498129.1:n.*404G>C
ENST00000650154.1:c.*152G>C (COPA)	ENSP00000497094.1:n.*152G>C
ENST00000241704.7:c.715G>C (COPA)	ENSP00000241704.7:p.Ala239Pro
ENST00000368069.7:c.715G>C (COPA)	ENSP00000357048.3:p.Ala239Pro
NM_001098398.1:c.715G>C (COPA)	NP_001091868.1:p.Ala239Pro
NM_004371.3:c.715G>C (COPA)	NP_004362.2:p.Ala239Pro
XM_011509584.1:c.-176+27526C>G (NHLH1)	XP_011507886.1:n.-176+27526C>G
NM_001098398.2:c.715G>C (COPA)	NP_001091868.1:p.Ala239Pro
NM_004371.4:c.715G>C (COPA) MANE Select	NP_004362.2:p.Ala239Pro