Canonical Allele Identifier: CA2648672769

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160313845G>C , CM000663.2:g.160313845G>C GRCh38
NC_000001.10:g.160283635G>C , CM000663.1:g.160283635G>C GRCh37
NC_000001.9:g.158550259G>C NCBI36
NG_050927.1:g.34720C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696202.1:n.514+145C>G (COPA)
ENST00000696203.1:n.3326+145C>G (COPA)
ENST00000696204.1:n.3533+145C>G (COPA)
ENST00000696206.1:n.613+145C>G (COPA)
ENST00000696207.1:n.839+145C>G (COPA)
ENST00000696208.1:n.945+145C>G (COPA)
ENST00000696209.1:n.1238+145C>G (COPA)
ENST00000696210.1:n.1238+145C>G (COPA)
ENST00000696211.1:n.1238+145C>G (COPA)
ENST00000696212.1:n.3526+145C>G (COPA)
ENST00000696213.1:n.1969+145C>G (COPA)
ENST00000696214.1:n.3552+145C>G (COPA)
ENST00000696215.1:n.945+145C>G (COPA)
ENST00000241704.8:c.842+145C>G (COPA) MANE Select ENSP00000241704.7:n.842+145C>G
ENST00000647683.1:c.842+145C>G (COPA) ENSP00000497495.1:n.842+145C>G
ENST00000647693.1:n.1926+145C>G (COPA)
ENST00000647799.1:c.*279+145C>G (COPA) ENSP00000497970.1:n.*279+145C>G
ENST00000647899.1:c.361+145C>G (COPA)
ENST00000648501.1:c.316-678C>G (COPA)
ENST00000648805.1:c.842+145C>G (COPA) ENSP00000497433.1:n.842+145C>G
ENST00000649231.1:c.842+145C>G (COPA) ENSP00000498061.1:n.842+145C>G
ENST00000649676.1:c.389+145C>G (COPA) ENSP00000497257.1:n.389+145C>G
ENST00000649787.1:c.842+145C>G (COPA) ENSP00000497231.1:n.842+145C>G
ENST00000649963.1:c.*531+145C>G (COPA) ENSP00000498129.1:n.*531+145C>G
ENST00000650154.1:c.*279+145C>G (COPA) ENSP00000497094.1:n.*279+145C>G
ENST00000241704.7:c.842+145C>G (COPA) ENSP00000241704.7:n.842+145C>G
ENST00000368069.7:c.842+145C>G (COPA) ENSP00000357048.3:n.842+145C>G
NM_001098398.1:c.842+145C>G (COPA) NP_001091868.1:n.842+145C>G
NM_004371.3:c.842+145C>G (COPA) NP_004362.2:n.842+145C>G
XM_011509584.1:c.-176+27254G>C (NHLH1) XP_011507886.1:n.-176+27254G>C
NM_001098398.2:c.842+145C>G (COPA) NP_001091868.1:n.842+145C>G
NM_004371.4:c.842+145C>G (COPA) MANE Select NP_004362.2:n.842+145C>G