Canonical Allele Identifier: CA343263493

Gene: COPA NHLH1

Linked Data

• MyVariant Identifiers: chr1:g.160283786G>A (hg19) ; chr1:g.160313996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313996G>A , CM000663.2:g.160313996G>A	GRCh38
NC_000001.10:g.160283786G>A , CM000663.1:g.160283786G>A	GRCh37
NC_000001.9:g.158550410G>A	NCBI36
NG_050927.1:g.34569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.508C>T (COPA)
ENST00000696203.1:n.3320C>T (COPA)
ENST00000696204.1:n.3527C>T (COPA)
ENST00000696206.1:n.607C>T (COPA)
ENST00000696207.1:n.833C>T (COPA)
ENST00000696208.1:n.939C>T (COPA)
ENST00000696209.1:n.1232C>T (COPA)
ENST00000696210.1:n.1232C>T (COPA)
ENST00000696211.1:n.1232C>T (COPA)
ENST00000696212.1:n.3520C>T (COPA)
ENST00000696213.1:n.1963C>T (COPA)
ENST00000696214.1:n.3546C>T (COPA)
ENST00000696215.1:n.939C>T (COPA)
ENST00000241704.8:c.836C>T (COPA) MANE Select	ENSP00000241704.7:p.Ser279Phe
ENST00000647683.1:c.836C>T (COPA)	ENSP00000497495.1:p.Ser279Phe
ENST00000647693.1:n.1920C>T (COPA)
ENST00000647799.1:c.*273C>T (COPA)	ENSP00000497970.1:n.*273C>T
ENST00000647899.1:c.355C>T (COPA)
ENST00000648501.1:c.316-829C>T (COPA)
ENST00000648805.1:c.836C>T (COPA)	ENSP00000497433.1:p.Ser279Phe
ENST00000649231.1:c.836C>T (COPA)	ENSP00000498061.1:p.Ser279Phe
ENST00000649676.1:c.383C>T (COPA)	ENSP00000497257.1:p.Ser128Phe
ENST00000649787.1:c.836C>T (COPA)	ENSP00000497231.1:p.Ser279Phe
ENST00000649963.1:c.*525C>T (COPA)	ENSP00000498129.1:n.*525C>T
ENST00000650154.1:c.*273C>T (COPA)	ENSP00000497094.1:n.*273C>T
ENST00000241704.7:c.836C>T (COPA)	ENSP00000241704.7:p.Ser279Phe
ENST00000368069.7:c.836C>T (COPA)	ENSP00000357048.3:p.Ser279Phe
NM_001098398.1:c.836C>T (COPA)	NP_001091868.1:p.Ser279Phe
NM_004371.3:c.836C>T (COPA)	NP_004362.2:p.Ser279Phe
XM_011509584.1:c.-176+27405G>A (NHLH1)	XP_011507886.1:n.-176+27405G>A
NM_001098398.2:c.836C>T (COPA)	NP_001091868.1:p.Ser279Phe
NM_004371.4:c.836C>T (COPA) MANE Select	NP_004362.2:p.Ser279Phe