Canonical Allele Identifier: CA343263538

Gene: COPA NHLH1

Linked Data

• gnomAD v4: 1-160313998-C-A
• MyVariant Identifiers: chr1:g.160283788C>A (hg19) ; chr1:g.160313998C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313998C>A , CM000663.2:g.160313998C>A	GRCh38
NC_000001.10:g.160283788C>A , CM000663.1:g.160283788C>A	GRCh37
NC_000001.9:g.158550412C>A	NCBI36
NG_050927.1:g.34567G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.506G>T (COPA)
ENST00000696203.1:n.3318G>T (COPA)
ENST00000696204.1:n.3525G>T (COPA)
ENST00000696206.1:n.605G>T (COPA)
ENST00000696207.1:n.831G>T (COPA)
ENST00000696208.1:n.937G>T (COPA)
ENST00000696209.1:n.1230G>T (COPA)
ENST00000696210.1:n.1230G>T (COPA)
ENST00000696211.1:n.1230G>T (COPA)
ENST00000696212.1:n.3518G>T (COPA)
ENST00000696213.1:n.1961G>T (COPA)
ENST00000696214.1:n.3544G>T (COPA)
ENST00000696215.1:n.937G>T (COPA)
ENST00000241704.8:c.834G>T (COPA) MANE Select	ENSP00000241704.7:p.Met278Ile
ENST00000647683.1:c.834G>T (COPA)	ENSP00000497495.1:p.Met278Ile
ENST00000647693.1:n.1918G>T (COPA)
ENST00000647799.1:c.*271G>T (COPA)	ENSP00000497970.1:n.*271G>T
ENST00000647899.1:c.353G>T (COPA)
ENST00000648501.1:c.316-831G>T (COPA)
ENST00000648805.1:c.834G>T (COPA)	ENSP00000497433.1:p.Met278Ile
ENST00000649231.1:c.834G>T (COPA)	ENSP00000498061.1:p.Met278Ile
ENST00000649676.1:c.381G>T (COPA)	ENSP00000497257.1:p.Met127Ile
ENST00000649787.1:c.834G>T (COPA)	ENSP00000497231.1:p.Met278Ile
ENST00000649963.1:c.*523G>T (COPA)	ENSP00000498129.1:n.*523G>T
ENST00000650154.1:c.*271G>T (COPA)	ENSP00000497094.1:n.*271G>T
ENST00000241704.7:c.834G>T (COPA)	ENSP00000241704.7:p.Met278Ile
ENST00000368069.7:c.834G>T (COPA)	ENSP00000357048.3:p.Met278Ile
NM_001098398.1:c.834G>T (COPA)	NP_001091868.1:p.Met278Ile
NM_004371.3:c.834G>T (COPA)	NP_004362.2:p.Met278Ile
XM_011509584.1:c.-176+27407C>A (NHLH1)	XP_011507886.1:n.-176+27407C>A
NM_001098398.2:c.834G>T (COPA)	NP_001091868.1:p.Met278Ile
NM_004371.4:c.834G>T (COPA) MANE Select	NP_004362.2:p.Met278Ile