Canonical Allele Identifier: CA31513826

Gene: COPA NHLH1

Linked Data

• dbSNP Id: rs555263319
• gnomAD v2: 1-160283492-C-T
• gnomAD v3: 1-160313702-C-T
• gnomAD v4: 1-160313702-C-T
• MyVariant Identifiers: chr1:g.160283492C>T (hg19) ; chr1:g.160313702C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313702C>T , CM000663.2:g.160313702C>T	GRCh38
NC_000001.10:g.160283492C>T , CM000663.1:g.160283492C>T	GRCh37
NC_000001.9:g.158550116C>T	NCBI36
NG_050927.1:g.34863G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.514+288G>A (COPA)
ENST00000696203.1:n.3326+288G>A (COPA)
ENST00000696204.1:n.3533+288G>A (COPA)
ENST00000696206.1:n.613+288G>A (COPA)
ENST00000696207.1:n.839+288G>A (COPA)
ENST00000696208.1:n.945+288G>A (COPA)
ENST00000696209.1:n.1238+288G>A (COPA)
ENST00000696210.1:n.1238+288G>A (COPA)
ENST00000696211.1:n.1238+288G>A (COPA)
ENST00000696212.1:n.3526+288G>A (COPA)
ENST00000696213.1:n.1969+288G>A (COPA)
ENST00000696214.1:n.3552+288G>A (COPA)
ENST00000696215.1:n.945+288G>A (COPA)
ENST00000241704.8:c.842+288G>A (COPA) MANE Select	ENSP00000241704.7:n.842+288G>A
ENST00000647683.1:c.842+288G>A (COPA)	ENSP00000497495.1:n.842+288G>A
ENST00000647693.1:n.1926+288G>A (COPA)
ENST00000647799.1:c.*279+288G>A (COPA)	ENSP00000497970.1:n.*279+288G>A
ENST00000647899.1:c.361+288G>A (COPA)
ENST00000648501.1:c.316-535G>A (COPA)
ENST00000648805.1:c.842+288G>A (COPA)	ENSP00000497433.1:n.842+288G>A
ENST00000649231.1:c.842+288G>A (COPA)	ENSP00000498061.1:n.842+288G>A
ENST00000649676.1:c.389+288G>A (COPA)	ENSP00000497257.1:n.389+288G>A
ENST00000649787.1:c.842+288G>A (COPA)	ENSP00000497231.1:n.842+288G>A
ENST00000649963.1:c.*531+288G>A (COPA)	ENSP00000498129.1:n.*531+288G>A
ENST00000650154.1:c.*279+288G>A (COPA)	ENSP00000497094.1:n.*279+288G>A
ENST00000241704.7:c.842+288G>A (COPA)	ENSP00000241704.7:n.842+288G>A
ENST00000368069.7:c.842+288G>A (COPA)	ENSP00000357048.3:n.842+288G>A
NM_001098398.1:c.842+288G>A (COPA)	NP_001091868.1:n.842+288G>A
NM_004371.3:c.842+288G>A (COPA)	NP_004362.2:n.842+288G>A
XM_011509584.1:c.-176+27111C>T (NHLH1)	XP_011507886.1:n.-176+27111C>T
NM_001098398.2:c.842+288G>A (COPA)	NP_001091868.1:n.842+288G>A
NM_004371.4:c.842+288G>A (COPA) MANE Select	NP_004362.2:n.842+288G>A