Canonical Allele Identifier: CA421355939

Gene: COPA NHLH1

Linked Data

• MyVariant Identifiers: chr1:g.160283911T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160314121T>C , CM000663.2:g.160314121T>C	GRCh38
NC_000001.10:g.160283911T>C , CM000663.1:g.160283911T>C	GRCh37
NC_000001.9:g.158550535T>C	NCBI36
NG_050927.1:g.34444A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.383A>G (COPA)
ENST00000696203.1:n.3195A>G (COPA)
ENST00000696204.1:n.3402A>G (COPA)
ENST00000696206.1:n.482A>G (COPA)
ENST00000696207.1:n.708A>G (COPA)
ENST00000696208.1:n.814A>G (COPA)
ENST00000696209.1:n.1107A>G (COPA)
ENST00000696210.1:n.1107A>G (COPA)
ENST00000696211.1:n.1107A>G (COPA)
ENST00000696212.1:n.3395A>G (COPA)
ENST00000696213.1:n.1838A>G (COPA)
ENST00000696214.1:n.3421A>G (COPA)
ENST00000696215.1:n.814A>G (COPA)
ENST00000241704.8:c.711A>G (COPA) MANE Select	ENSP00000241704.7:p.Ser237=
ENST00000647683.1:c.711A>G (COPA)	ENSP00000497495.1:p.Ser237=
ENST00000647693.1:n.1795A>G (COPA)
ENST00000647799.1:c.*148A>G (COPA)	ENSP00000497970.1:n.*148A>G
ENST00000647899.1:c.230A>G (COPA)
ENST00000648501.1:c.316-954A>G (COPA)
ENST00000648805.1:c.711A>G (COPA)	ENSP00000497433.1:p.Ser237=
ENST00000649231.1:c.711A>G (COPA)	ENSP00000498061.1:p.Ser237=
ENST00000649676.1:c.258A>G (COPA)	ENSP00000497257.1:p.Ser86=
ENST00000649787.1:c.711A>G (COPA)	ENSP00000497231.1:p.Ser237=
ENST00000649963.1:c.*400A>G (COPA)	ENSP00000498129.1:n.*400A>G
ENST00000650154.1:c.*148A>G (COPA)	ENSP00000497094.1:n.*148A>G
ENST00000241704.7:c.711A>G (COPA)	ENSP00000241704.7:p.Ser237=
ENST00000368069.7:c.711A>G (COPA)	ENSP00000357048.3:p.Ser237=
NM_001098398.1:c.711A>G (COPA)	NP_001091868.1:p.Ser237=
NM_004371.3:c.711A>G (COPA)	NP_004362.2:p.Ser237=
XM_011509584.1:c.-176+27530T>C (NHLH1)	XP_011507886.1:n.-176+27530T>C
NM_001098398.2:c.711A>G (COPA)	NP_001091868.1:p.Ser237=
NM_004371.4:c.711A>G (COPA) MANE Select	NP_004362.2:p.Ser237=