Canonical Allele Identifier: CA343264488

Gene: COPA NHLH1

Linked Data

• gnomAD v4: 1-160314105-C-T
• MyVariant Identifiers: chr1:g.160283895C>T (hg19) ; chr1:g.160314105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160314105C>T , CM000663.2:g.160314105C>T	GRCh38
NC_000001.10:g.160283895C>T , CM000663.1:g.160283895C>T	GRCh37
NC_000001.9:g.158550519C>T	NCBI36
NG_050927.1:g.34460G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696202.1:n.399G>A (COPA)
ENST00000696203.1:n.3211G>A (COPA)
ENST00000696204.1:n.3418G>A (COPA)
ENST00000696206.1:n.498G>A (COPA)
ENST00000696207.1:n.724G>A (COPA)
ENST00000696208.1:n.830G>A (COPA)
ENST00000696209.1:n.1123G>A (COPA)
ENST00000696210.1:n.1123G>A (COPA)
ENST00000696211.1:n.1123G>A (COPA)
ENST00000696212.1:n.3411G>A (COPA)
ENST00000696213.1:n.1854G>A (COPA)
ENST00000696214.1:n.3437G>A (COPA)
ENST00000696215.1:n.830G>A (COPA)
ENST00000241704.8:c.727G>A (COPA) MANE Select	ENSP00000241704.7:p.Asp243Asn
ENST00000647683.1:c.727G>A (COPA)	ENSP00000497495.1:p.Asp243Asn
ENST00000647693.1:n.1811G>A (COPA)
ENST00000647799.1:c.*164G>A (COPA)	ENSP00000497970.1:n.*164G>A
ENST00000647899.1:c.246G>A (COPA)
ENST00000648501.1:c.316-938G>A (COPA)
ENST00000648805.1:c.727G>A (COPA)	ENSP00000497433.1:p.Asp243Asn
ENST00000649231.1:c.727G>A (COPA)	ENSP00000498061.1:p.Asp243Asn
ENST00000649676.1:c.274G>A (COPA)	ENSP00000497257.1:p.Asp92Asn
ENST00000649787.1:c.727G>A (COPA)	ENSP00000497231.1:p.Asp243Asn
ENST00000649963.1:c.*416G>A (COPA)	ENSP00000498129.1:n.*416G>A
ENST00000650154.1:c.*164G>A (COPA)	ENSP00000497094.1:n.*164G>A
ENST00000241704.7:c.727G>A (COPA)	ENSP00000241704.7:p.Asp243Asn
ENST00000368069.7:c.727G>A (COPA)	ENSP00000357048.3:p.Asp243Asn
NM_001098398.1:c.727G>A (COPA)	NP_001091868.1:p.Asp243Asn
NM_004371.3:c.727G>A (COPA)	NP_004362.2:p.Asp243Asn
XM_011509584.1:c.-176+27514C>T (NHLH1)	XP_011507886.1:n.-176+27514C>T
NM_001098398.2:c.727G>A (COPA)	NP_001091868.1:p.Asp243Asn
NM_004371.4:c.727G>A (COPA) MANE Select	NP_004362.2:p.Asp243Asn