Canonical Allele Identifier: CA343264340

Gene: COPA NHLH1

Linked Data

• dbSNP Id: rs1224155447
• gnomAD v3: 1-160314083-T-C
• gnomAD v4: 1-160314083-T-C
• MyVariant Identifiers: chr1:g.160283873T>C (hg19) ; chr1:g.160314083T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160314083T>C , CM000663.2:g.160314083T>C	GRCh38
NC_000001.10:g.160283873T>C , CM000663.1:g.160283873T>C	GRCh37
NC_000001.9:g.158550497T>C	NCBI36
NG_050927.1:g.34482A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.421A>G (COPA)
ENST00000696203.1:n.3233A>G (COPA)
ENST00000696204.1:n.3440A>G (COPA)
ENST00000696206.1:n.520A>G (COPA)
ENST00000696207.1:n.746A>G (COPA)
ENST00000696208.1:n.852A>G (COPA)
ENST00000696209.1:n.1145A>G (COPA)
ENST00000696210.1:n.1145A>G (COPA)
ENST00000696211.1:n.1145A>G (COPA)
ENST00000696212.1:n.3433A>G (COPA)
ENST00000696213.1:n.1876A>G (COPA)
ENST00000696214.1:n.3459A>G (COPA)
ENST00000696215.1:n.852A>G (COPA)
ENST00000241704.8:c.749A>G (COPA) MANE Select	ENSP00000241704.7:p.Asn250Ser
ENST00000647683.1:c.749A>G (COPA)	ENSP00000497495.1:p.Asn250Ser
ENST00000647693.1:n.1833A>G (COPA)
ENST00000647799.1:c.*186A>G (COPA)	ENSP00000497970.1:n.*186A>G
ENST00000647899.1:c.268A>G (COPA)
ENST00000648501.1:c.316-916A>G (COPA)
ENST00000648805.1:c.749A>G (COPA)	ENSP00000497433.1:p.Asn250Ser
ENST00000649231.1:c.749A>G (COPA)	ENSP00000498061.1:p.Asn250Ser
ENST00000649676.1:c.296A>G (COPA)	ENSP00000497257.1:p.Asn99Ser
ENST00000649787.1:c.749A>G (COPA)	ENSP00000497231.1:p.Asn250Ser
ENST00000649963.1:c.*438A>G (COPA)	ENSP00000498129.1:n.*438A>G
ENST00000650154.1:c.*186A>G (COPA)	ENSP00000497094.1:n.*186A>G
ENST00000241704.7:c.749A>G (COPA)	ENSP00000241704.7:p.Asn250Ser
ENST00000368069.7:c.749A>G (COPA)	ENSP00000357048.3:p.Asn250Ser
NM_001098398.1:c.749A>G (COPA)	NP_001091868.1:p.Asn250Ser
NM_004371.3:c.749A>G (COPA)	NP_004362.2:p.Asn250Ser
XM_011509584.1:c.-176+27492T>C (NHLH1)	XP_011507886.1:n.-176+27492T>C
NM_001098398.2:c.749A>G (COPA)	NP_001091868.1:p.Asn250Ser
NM_004371.4:c.749A>G (COPA) MANE Select	NP_004362.2:p.Asn250Ser