Canonical Allele Identifier: CA1008334480

Gene: COPA NHLH1

Linked Data

• dbSNP Id: rs1571165558
• gnomAD v3: 1-160313788-G-A
• gnomAD v4: 1-160313788-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313788G>A , CM000663.2:g.160313788G>A	GRCh38
NC_000001.10:g.160283578G>A , CM000663.1:g.160283578G>A	GRCh37
NC_000001.9:g.158550202G>A	NCBI36
NG_050927.1:g.34777C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.514+202C>T (COPA)
ENST00000696203.1:n.3326+202C>T (COPA)
ENST00000696204.1:n.3533+202C>T (COPA)
ENST00000696206.1:n.613+202C>T (COPA)
ENST00000696207.1:n.839+202C>T (COPA)
ENST00000696208.1:n.945+202C>T (COPA)
ENST00000696209.1:n.1238+202C>T (COPA)
ENST00000696210.1:n.1238+202C>T (COPA)
ENST00000696211.1:n.1238+202C>T (COPA)
ENST00000696212.1:n.3526+202C>T (COPA)
ENST00000696213.1:n.1969+202C>T (COPA)
ENST00000696214.1:n.3552+202C>T (COPA)
ENST00000696215.1:n.945+202C>T (COPA)
ENST00000241704.8:c.842+202C>T (COPA) MANE Select	ENSP00000241704.7:n.842+202C>T
ENST00000647683.1:c.842+202C>T (COPA)	ENSP00000497495.1:n.842+202C>T
ENST00000647693.1:n.1926+202C>T (COPA)
ENST00000647799.1:c.*279+202C>T (COPA)	ENSP00000497970.1:n.*279+202C>T
ENST00000647899.1:c.361+202C>T (COPA)
ENST00000648501.1:c.316-621C>T (COPA)
ENST00000648805.1:c.842+202C>T (COPA)	ENSP00000497433.1:n.842+202C>T
ENST00000649231.1:c.842+202C>T (COPA)	ENSP00000498061.1:n.842+202C>T
ENST00000649676.1:c.389+202C>T (COPA)	ENSP00000497257.1:n.389+202C>T
ENST00000649787.1:c.842+202C>T (COPA)	ENSP00000497231.1:n.842+202C>T
ENST00000649963.1:c.*531+202C>T (COPA)	ENSP00000498129.1:n.*531+202C>T
ENST00000650154.1:c.*279+202C>T (COPA)	ENSP00000497094.1:n.*279+202C>T
ENST00000241704.7:c.842+202C>T (COPA)	ENSP00000241704.7:n.842+202C>T
ENST00000368069.7:c.842+202C>T (COPA)	ENSP00000357048.3:n.842+202C>T
NM_001098398.1:c.842+202C>T (COPA)	NP_001091868.1:n.842+202C>T
NM_004371.3:c.842+202C>T (COPA)	NP_004362.2:n.842+202C>T
XM_011509584.1:c.-176+27197G>A (NHLH1)	XP_011507886.1:n.-176+27197G>A
NM_001098398.2:c.842+202C>T (COPA)	NP_001091868.1:n.842+202C>T
NM_004371.4:c.842+202C>T (COPA) MANE Select	NP_004362.2:n.842+202C>T