Canonical Allele Identifier: CA890118404

Gene: COPA NHLH1

Linked Data

• dbSNP Id: rs10752637
• gnomAD v2: 1-160312265-T-C
• gnomAD v3: 1-160342475-T-C
• gnomAD v4: 1-160342475-T-C
• MyVariant Identifiers: chr1:g.160312265T>C (hg19) ; chr1:g.160342475T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160342475T>C , CM000663.2:g.160342475T>C	GRCh38
NC_000001.10:g.160312265T>C , CM000663.1:g.160312265T>C	GRCh37
NC_000001.9:g.158578889T>C	NCBI36
NG_027935.1:g.4203T>C
NG_050927.1:g.6090A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696204.1:n.124+656A>G (COPA)
ENST00000696207.1:n.114+656A>G (COPA)
ENST00000696208.1:n.143+656A>G (COPA)
ENST00000696209.1:n.436+656A>G (COPA)
ENST00000696210.1:n.436+656A>G (COPA)
ENST00000696211.1:n.436+656A>G (COPA)
ENST00000696212.1:n.117+656A>G (COPA)
ENST00000696213.1:n.122+656A>G (COPA)
ENST00000696214.1:n.143+656A>G (COPA)
ENST00000696215.1:n.143+656A>G (COPA)
ENST00000696216.1:n.117+656A>G (COPA)
ENST00000241704.8:c.40+656A>G (COPA) MANE Select	ENSP00000241704.7:n.40+656A>G
ENST00000647683.1:c.40+656A>G (COPA)	ENSP00000497495.1:n.40+656A>G
ENST00000647693.1:n.79+656A>G (COPA)
ENST00000647799.1:c.40+656A>G (COPA)	ENSP00000497970.1:n.40+656A>G
ENST00000648805.1:c.40+656A>G (COPA)	ENSP00000497433.1:n.40+656A>G
ENST00000649231.1:c.40+656A>G (COPA)	ENSP00000498061.1:n.40+656A>G
ENST00000649787.1:c.40+656A>G (COPA)	ENSP00000497231.1:n.40+656A>G
ENST00000649963.1:c.40+656A>G (COPA)	ENSP00000498129.1:n.40+656A>G
ENST00000650154.1:c.40+656A>G (COPA)	ENSP00000497094.1:n.40+656A>G
ENST00000241704.7:c.40+656A>G (COPA)	ENSP00000241704.7:n.40+656A>G
ENST00000368069.7:c.40+656A>G (COPA)	ENSP00000357048.3:n.40+656A>G
ENST00000541366.1:n.129+656A>G (COPA)
NM_001098398.1:c.40+656A>G (COPA)	NP_001091868.1:n.40+656A>G
NM_004371.3:c.40+656A>G (COPA)	NP_004362.2:n.40+656A>G
XM_011509584.1:c.-175-28082T>C (NHLH1)	XP_011507886.1:n.-175-28082T>C
NM_001098398.2:c.40+656A>G (COPA)	NP_001091868.1:n.40+656A>G
NM_004371.4:c.40+656A>G (COPA) MANE Select	NP_004362.2:n.40+656A>G