Canonical Allele Identifier: CA421355923

Gene: COPA NHLH1

Linked Data

• MyVariant Identifiers: chr1:g.160283905T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160314115T>C , CM000663.2:g.160314115T>C	GRCh38
NC_000001.10:g.160283905T>C , CM000663.1:g.160283905T>C	GRCh37
NC_000001.9:g.158550529T>C	NCBI36
NG_050927.1:g.34450A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696202.1:n.389A>G (COPA)
ENST00000696203.1:n.3201A>G (COPA)
ENST00000696204.1:n.3408A>G (COPA)
ENST00000696206.1:n.488A>G (COPA)
ENST00000696207.1:n.714A>G (COPA)
ENST00000696208.1:n.820A>G (COPA)
ENST00000696209.1:n.1113A>G (COPA)
ENST00000696210.1:n.1113A>G (COPA)
ENST00000696211.1:n.1113A>G (COPA)
ENST00000696212.1:n.3401A>G (COPA)
ENST00000696213.1:n.1844A>G (COPA)
ENST00000696214.1:n.3427A>G (COPA)
ENST00000696215.1:n.820A>G (COPA)
ENST00000241704.8:c.717A>G (COPA) MANE Select	ENSP00000241704.7:p.Ala239=
ENST00000647683.1:c.717A>G (COPA)	ENSP00000497495.1:p.Ala239=
ENST00000647693.1:n.1801A>G (COPA)
ENST00000647799.1:c.*154A>G (COPA)	ENSP00000497970.1:n.*154A>G
ENST00000647899.1:c.236A>G (COPA)
ENST00000648501.1:c.316-948A>G (COPA)
ENST00000648805.1:c.717A>G (COPA)	ENSP00000497433.1:p.Ala239=
ENST00000649231.1:c.717A>G (COPA)	ENSP00000498061.1:p.Ala239=
ENST00000649676.1:c.264A>G (COPA)	ENSP00000497257.1:p.Ala88=
ENST00000649787.1:c.717A>G (COPA)	ENSP00000497231.1:p.Ala239=
ENST00000649963.1:c.*406A>G (COPA)	ENSP00000498129.1:n.*406A>G
ENST00000650154.1:c.*154A>G (COPA)	ENSP00000497094.1:n.*154A>G
ENST00000241704.7:c.717A>G (COPA)	ENSP00000241704.7:p.Ala239=
ENST00000368069.7:c.717A>G (COPA)	ENSP00000357048.3:p.Ala239=
NM_001098398.1:c.717A>G (COPA)	NP_001091868.1:p.Ala239=
NM_004371.3:c.717A>G (COPA)	NP_004362.2:p.Ala239=
XM_011509584.1:c.-176+27524T>C (NHLH1)	XP_011507886.1:n.-176+27524T>C
NM_001098398.2:c.717A>G (COPA)	NP_001091868.1:p.Ala239=
NM_004371.4:c.717A>G (COPA) MANE Select	NP_004362.2:p.Ala239=