Canonical Allele Identifier: CA343264347

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160314084T>A , CM000663.2:g.160314084T>A GRCh38
NC_000001.10:g.160283874T>A , CM000663.1:g.160283874T>A GRCh37
NC_000001.9:g.158550498T>A NCBI36
NG_050927.1:g.34481A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696202.1:n.420A>T (COPA)
ENST00000696203.1:n.3232A>T (COPA)
ENST00000696204.1:n.3439A>T (COPA)
ENST00000696206.1:n.519A>T (COPA)
ENST00000696207.1:n.745A>T (COPA)
ENST00000696208.1:n.851A>T (COPA)
ENST00000696209.1:n.1144A>T (COPA)
ENST00000696210.1:n.1144A>T (COPA)
ENST00000696211.1:n.1144A>T (COPA)
ENST00000696212.1:n.3432A>T (COPA)
ENST00000696213.1:n.1875A>T (COPA)
ENST00000696214.1:n.3458A>T (COPA)
ENST00000696215.1:n.851A>T (COPA)
ENST00000241704.8:c.748A>T (COPA) MANE Select ENSP00000241704.7:p.Asn250Tyr
ENST00000647683.1:c.748A>T (COPA) ENSP00000497495.1:p.Asn250Tyr
ENST00000647693.1:n.1832A>T (COPA)
ENST00000647799.1:c.*185A>T (COPA) ENSP00000497970.1:n.*185A>T
ENST00000647899.1:c.267A>T (COPA)
ENST00000648501.1:c.316-917A>T (COPA)
ENST00000648805.1:c.748A>T (COPA) ENSP00000497433.1:p.Asn250Tyr
ENST00000649231.1:c.748A>T (COPA) ENSP00000498061.1:p.Asn250Tyr
ENST00000649676.1:c.295A>T (COPA) ENSP00000497257.1:p.Asn99Tyr
ENST00000649787.1:c.748A>T (COPA) ENSP00000497231.1:p.Asn250Tyr
ENST00000649963.1:c.*437A>T (COPA) ENSP00000498129.1:n.*437A>T
ENST00000650154.1:c.*185A>T (COPA) ENSP00000497094.1:n.*185A>T
ENST00000241704.7:c.748A>T (COPA) ENSP00000241704.7:p.Asn250Tyr
ENST00000368069.7:c.748A>T (COPA) ENSP00000357048.3:p.Asn250Tyr
NM_001098398.1:c.748A>T (COPA) NP_001091868.1:p.Asn250Tyr
NM_004371.3:c.748A>T (COPA) NP_004362.2:p.Asn250Tyr
XM_011509584.1:c.-176+27493T>A (NHLH1) XP_011507886.1:n.-176+27493T>A
NM_001098398.2:c.748A>T (COPA) NP_001091868.1:p.Asn250Tyr
NM_004371.4:c.748A>T (COPA) MANE Select NP_004362.2:p.Asn250Tyr