Canonical Allele Identifier: CA421355626

Gene: COPA NHLH1

Linked Data

• MyVariant Identifiers: chr1:g.160283830G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160314040G>T , CM000663.2:g.160314040G>T	GRCh38
NC_000001.10:g.160283830G>T , CM000663.1:g.160283830G>T	GRCh37
NC_000001.9:g.158550454G>T	NCBI36
NG_050927.1:g.34525C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.464C>A (COPA)
ENST00000696203.1:n.3276C>A (COPA)
ENST00000696204.1:n.3483C>A (COPA)
ENST00000696206.1:n.563C>A (COPA)
ENST00000696207.1:n.789C>A (COPA)
ENST00000696208.1:n.895C>A (COPA)
ENST00000696209.1:n.1188C>A (COPA)
ENST00000696210.1:n.1188C>A (COPA)
ENST00000696211.1:n.1188C>A (COPA)
ENST00000696212.1:n.3476C>A (COPA)
ENST00000696213.1:n.1919C>A (COPA)
ENST00000696214.1:n.3502C>A (COPA)
ENST00000696215.1:n.895C>A (COPA)
ENST00000241704.8:c.792C>A (COPA) MANE Select	ENSP00000241704.7:p.Ile264=
ENST00000647683.1:c.792C>A (COPA)	ENSP00000497495.1:p.Ile264=
ENST00000647693.1:n.1876C>A (COPA)
ENST00000647799.1:c.*229C>A (COPA)	ENSP00000497970.1:n.*229C>A
ENST00000647899.1:c.311C>A (COPA)
ENST00000648501.1:c.316-873C>A (COPA)
ENST00000648805.1:c.792C>A (COPA)	ENSP00000497433.1:p.Ile264=
ENST00000649231.1:c.792C>A (COPA)	ENSP00000498061.1:p.Ile264=
ENST00000649676.1:c.339C>A (COPA)	ENSP00000497257.1:p.Ile113=
ENST00000649787.1:c.792C>A (COPA)	ENSP00000497231.1:p.Ile264=
ENST00000649963.1:c.*481C>A (COPA)	ENSP00000498129.1:n.*481C>A
ENST00000650154.1:c.*229C>A (COPA)	ENSP00000497094.1:n.*229C>A
ENST00000241704.7:c.792C>A (COPA)	ENSP00000241704.7:p.Ile264=
ENST00000368069.7:c.792C>A (COPA)	ENSP00000357048.3:p.Ile264=
NM_001098398.1:c.792C>A (COPA)	NP_001091868.1:p.Ile264=
NM_004371.3:c.792C>A (COPA)	NP_004362.2:p.Ile264=
XM_011509584.1:c.-176+27449G>T (NHLH1)	XP_011507886.1:n.-176+27449G>T
NM_001098398.2:c.792C>A (COPA)	NP_001091868.1:p.Ile264=
NM_004371.4:c.792C>A (COPA) MANE Select	NP_004362.2:p.Ile264=