Canonical Allele Identifier: CA421355916

Gene: COPA NHLH1

Linked Data

• dbSNP Id: rs1659062964
• gnomAD v4: 1-160314109-C-T
• MyVariant Identifiers: chr1:g.160283899C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160314109C>T , CM000663.2:g.160314109C>T	GRCh38
NC_000001.10:g.160283899C>T , CM000663.1:g.160283899C>T	GRCh37
NC_000001.9:g.158550523C>T	NCBI36
NG_050927.1:g.34456G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696202.1:n.395G>A (COPA)
ENST00000696203.1:n.3207G>A (COPA)
ENST00000696204.1:n.3414G>A (COPA)
ENST00000696206.1:n.494G>A (COPA)
ENST00000696207.1:n.720G>A (COPA)
ENST00000696208.1:n.826G>A (COPA)
ENST00000696209.1:n.1119G>A (COPA)
ENST00000696210.1:n.1119G>A (COPA)
ENST00000696211.1:n.1119G>A (COPA)
ENST00000696212.1:n.3407G>A (COPA)
ENST00000696213.1:n.1850G>A (COPA)
ENST00000696214.1:n.3433G>A (COPA)
ENST00000696215.1:n.826G>A (COPA)
ENST00000241704.8:c.723G>A (COPA) MANE Select	ENSP00000241704.7:p.Glu241=
ENST00000647683.1:c.723G>A (COPA)	ENSP00000497495.1:p.Glu241=
ENST00000647693.1:n.1807G>A (COPA)
ENST00000647799.1:c.*160G>A (COPA)	ENSP00000497970.1:n.*160G>A
ENST00000647899.1:c.242G>A (COPA)
ENST00000648501.1:c.316-942G>A (COPA)
ENST00000648805.1:c.723G>A (COPA)	ENSP00000497433.1:p.Glu241=
ENST00000649231.1:c.723G>A (COPA)	ENSP00000498061.1:p.Glu241=
ENST00000649676.1:c.270G>A (COPA)	ENSP00000497257.1:p.Glu90=
ENST00000649787.1:c.723G>A (COPA)	ENSP00000497231.1:p.Glu241=
ENST00000649963.1:c.*412G>A (COPA)	ENSP00000498129.1:n.*412G>A
ENST00000650154.1:c.*160G>A (COPA)	ENSP00000497094.1:n.*160G>A
ENST00000241704.7:c.723G>A (COPA)	ENSP00000241704.7:p.Glu241=
ENST00000368069.7:c.723G>A (COPA)	ENSP00000357048.3:p.Glu241=
NM_001098398.1:c.723G>A (COPA)	NP_001091868.1:p.Glu241=
NM_004371.3:c.723G>A (COPA)	NP_004362.2:p.Glu241=
XM_011509584.1:c.-176+27518C>T (NHLH1)	XP_011507886.1:n.-176+27518C>T
NM_001098398.2:c.723G>A (COPA)	NP_001091868.1:p.Glu241=
NM_004371.4:c.723G>A (COPA) MANE Select	NP_004362.2:p.Glu241=