Canonical Allele Identifier: CA343263623

Gene: COPA NHLH1

Linked Data

• MyVariant Identifiers: chr1:g.160283792T>C (hg19) ; chr1:g.160314002T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160314002T>C , CM000663.2:g.160314002T>C	GRCh38
NC_000001.10:g.160283792T>C , CM000663.1:g.160283792T>C	GRCh37
NC_000001.9:g.158550416T>C	NCBI36
NG_050927.1:g.34563A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.502A>G (COPA)
ENST00000696203.1:n.3314A>G (COPA)
ENST00000696204.1:n.3521A>G (COPA)
ENST00000696206.1:n.601A>G (COPA)
ENST00000696207.1:n.827A>G (COPA)
ENST00000696208.1:n.933A>G (COPA)
ENST00000696209.1:n.1226A>G (COPA)
ENST00000696210.1:n.1226A>G (COPA)
ENST00000696211.1:n.1226A>G (COPA)
ENST00000696212.1:n.3514A>G (COPA)
ENST00000696213.1:n.1957A>G (COPA)
ENST00000696214.1:n.3540A>G (COPA)
ENST00000696215.1:n.933A>G (COPA)
ENST00000241704.8:c.830A>G (COPA) MANE Select	ENSP00000241704.7:p.Asp277Gly
ENST00000647683.1:c.830A>G (COPA)	ENSP00000497495.1:p.Asp277Gly
ENST00000647693.1:n.1914A>G (COPA)
ENST00000647799.1:c.*267A>G (COPA)	ENSP00000497970.1:n.*267A>G
ENST00000647899.1:c.349A>G (COPA)
ENST00000648501.1:c.316-835A>G (COPA)
ENST00000648805.1:c.830A>G (COPA)	ENSP00000497433.1:p.Asp277Gly
ENST00000649231.1:c.830A>G (COPA)	ENSP00000498061.1:p.Asp277Gly
ENST00000649676.1:c.377A>G (COPA)	ENSP00000497257.1:p.Asp126Gly
ENST00000649787.1:c.830A>G (COPA)	ENSP00000497231.1:p.Asp277Gly
ENST00000649963.1:c.*519A>G (COPA)	ENSP00000498129.1:n.*519A>G
ENST00000650154.1:c.*267A>G (COPA)	ENSP00000497094.1:n.*267A>G
ENST00000241704.7:c.830A>G (COPA)	ENSP00000241704.7:p.Asp277Gly
ENST00000368069.7:c.830A>G (COPA)	ENSP00000357048.3:p.Asp277Gly
NM_001098398.1:c.830A>G (COPA)	NP_001091868.1:p.Asp277Gly
NM_004371.3:c.830A>G (COPA)	NP_004362.2:p.Asp277Gly
XM_011509584.1:c.-176+27411T>C (NHLH1)	XP_011507886.1:n.-176+27411T>C
NM_001098398.2:c.830A>G (COPA)	NP_001091868.1:p.Asp277Gly
NM_004371.4:c.830A>G (COPA) MANE Select	NP_004362.2:p.Asp277Gly