Canonical Allele Identifier: CA343264012

Gene: COPA NHLH1

Linked Data

• ClinVar Variation Id: 1009634
• ClinVar RCV Id: RCV001307151
• dbSNP Id: rs1659059803
• MyVariant Identifiers: chr1:g.160283832T>C (hg19) ; chr1:g.160314042T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160314042T>C , CM000663.2:g.160314042T>C	GRCh38
NC_000001.10:g.160283832T>C , CM000663.1:g.160283832T>C	GRCh37
NC_000001.9:g.158550456T>C	NCBI36
NG_050927.1:g.34523A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.462A>G (COPA)
ENST00000696203.1:n.3274A>G (COPA)
ENST00000696204.1:n.3481A>G (COPA)
ENST00000696206.1:n.561A>G (COPA)
ENST00000696207.1:n.787A>G (COPA)
ENST00000696208.1:n.893A>G (COPA)
ENST00000696209.1:n.1186A>G (COPA)
ENST00000696210.1:n.1186A>G (COPA)
ENST00000696211.1:n.1186A>G (COPA)
ENST00000696212.1:n.3474A>G (COPA)
ENST00000696213.1:n.1917A>G (COPA)
ENST00000696214.1:n.3500A>G (COPA)
ENST00000696215.1:n.893A>G (COPA)
ENST00000241704.8:c.790A>G (COPA) MANE Select	ENSP00000241704.7:p.Ile264Val
ENST00000647683.1:c.790A>G (COPA)	ENSP00000497495.1:p.Ile264Val
ENST00000647693.1:n.1874A>G (COPA)
ENST00000647799.1:c.*227A>G (COPA)	ENSP00000497970.1:n.*227A>G
ENST00000647899.1:c.309A>G (COPA)
ENST00000648501.1:c.316-875A>G (COPA)
ENST00000648805.1:c.790A>G (COPA)	ENSP00000497433.1:p.Ile264Val
ENST00000649231.1:c.790A>G (COPA)	ENSP00000498061.1:p.Ile264Val
ENST00000649676.1:c.337A>G (COPA)	ENSP00000497257.1:p.Ile113Val
ENST00000649787.1:c.790A>G (COPA)	ENSP00000497231.1:p.Ile264Val
ENST00000649963.1:c.*479A>G (COPA)	ENSP00000498129.1:n.*479A>G
ENST00000650154.1:c.*227A>G (COPA)	ENSP00000497094.1:n.*227A>G
ENST00000241704.7:c.790A>G (COPA)	ENSP00000241704.7:p.Ile264Val
ENST00000368069.7:c.790A>G (COPA)	ENSP00000357048.3:p.Ile264Val
NM_001098398.1:c.790A>G (COPA)	NP_001091868.1:p.Ile264Val
NM_004371.3:c.790A>G (COPA)	NP_004362.2:p.Ile264Val
XM_011509584.1:c.-176+27451T>C (NHLH1)	XP_011507886.1:n.-176+27451T>C
NM_001098398.2:c.790A>G (COPA)	NP_001091868.1:p.Ile264Val
NM_004371.4:c.790A>G (COPA) MANE Select	NP_004362.2:p.Ile264Val