Canonical Allele Identifier: CA343274802

Gene: COPA NHLH1

Linked Data

• ClinVar Variation Id: 2964744
• ClinVar RCV Id: RCV003828366
• gnomAD v4: 1-160293195-G-C
• MyVariant Identifiers: chr1:g.160262985G>C (hg19) ; chr1:g.160293195G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160293195G>C , CM000663.2:g.160293195G>C	GRCh38
NC_000001.10:g.160262985G>C , CM000663.1:g.160262985G>C	GRCh37
NC_000001.9:g.158529609G>C	NCBI36
NG_050927.1:g.55370C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.2466C>G (COPA)
ENST00000696203.1:n.5278C>G (COPA)
ENST00000696204.1:n.5485C>G (COPA)
ENST00000696205.1:n.1221C>G (COPA)
ENST00000696206.1:n.2255C>G (COPA)
ENST00000696207.1:n.3723C>G (COPA)
ENST00000696208.1:n.3007C>G (COPA)
ENST00000696209.1:n.3391C>G (COPA)
ENST00000696210.1:n.3190C>G (COPA)
ENST00000241704.8:c.2794C>G (COPA) MANE Select	ENSP00000241704.7:p.Leu932Val
ENST00000647683.1:c.2794C>G (COPA)	ENSP00000497495.1:p.Leu932Val
ENST00000647693.1:n.3715C>G (COPA)
ENST00000647799.1:c.*2148C>G (COPA)	ENSP00000497970.1:n.*2148C>G
ENST00000648280.1:c.505+191C>G (COPA)
ENST00000648501.1:c.2267C>G (COPA)
ENST00000648805.1:c.*1325C>G (COPA)	ENSP00000497433.1:n.*1325C>G
ENST00000649231.1:c.*654C>G (COPA)	ENSP00000498061.1:n.*654C>G
ENST00000649676.1:c.2194C>G (COPA)	ENSP00000497257.1:p.Leu732Val
ENST00000649787.1:c.2734C>G (COPA)	ENSP00000497231.1:p.Leu912Val
ENST00000649963.1:c.*2483C>G (COPA)	ENSP00000498129.1:n.*2483C>G
ENST00000650154.1:c.*2231C>G (COPA)	ENSP00000497094.1:n.*2231C>G
ENST00000241704.7:c.2794C>G (COPA)	ENSP00000241704.7:p.Leu932Val
ENST00000368069.7:c.2821C>G (COPA)	ENSP00000357048.3:p.Leu941Val
NM_001098398.1:c.2821C>G (COPA)	NP_001091868.1:p.Leu941Val
NM_004371.3:c.2794C>G (COPA)	NP_004362.2:p.Leu932Val
XM_011509584.1:c.-176+6604G>C (NHLH1)	XP_011507886.1:n.-176+6604G>C
NM_001098398.2:c.2821C>G (COPA)	NP_001091868.1:p.Leu941Val
NM_004371.4:c.2794C>G (COPA) MANE Select	NP_004362.2:p.Leu932Val