Canonical Allele Identifier: CA2648672814

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160313934C>A , CM000663.2:g.160313934C>A GRCh38
NC_000001.10:g.160283724C>A , CM000663.1:g.160283724C>A GRCh37
NC_000001.9:g.158550348C>A NCBI36
NG_050927.1:g.34631G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696202.1:n.514+56G>T (COPA)
ENST00000696203.1:n.3326+56G>T (COPA)
ENST00000696204.1:n.3533+56G>T (COPA)
ENST00000696206.1:n.613+56G>T (COPA)
ENST00000696207.1:n.839+56G>T (COPA)
ENST00000696208.1:n.945+56G>T (COPA)
ENST00000696209.1:n.1238+56G>T (COPA)
ENST00000696210.1:n.1238+56G>T (COPA)
ENST00000696211.1:n.1238+56G>T (COPA)
ENST00000696212.1:n.3526+56G>T (COPA)
ENST00000696213.1:n.1969+56G>T (COPA)
ENST00000696214.1:n.3552+56G>T (COPA)
ENST00000696215.1:n.945+56G>T (COPA)
ENST00000241704.8:c.842+56G>T (COPA) MANE Select ENSP00000241704.7:n.842+56G>T
ENST00000647683.1:c.842+56G>T (COPA) ENSP00000497495.1:n.842+56G>T
ENST00000647693.1:n.1926+56G>T (COPA)
ENST00000647799.1:c.*279+56G>T (COPA) ENSP00000497970.1:n.*279+56G>T
ENST00000647899.1:c.361+56G>T (COPA)
ENST00000648501.1:c.316-767G>T (COPA)
ENST00000648805.1:c.842+56G>T (COPA) ENSP00000497433.1:n.842+56G>T
ENST00000649231.1:c.842+56G>T (COPA) ENSP00000498061.1:n.842+56G>T
ENST00000649676.1:c.389+56G>T (COPA) ENSP00000497257.1:n.389+56G>T
ENST00000649787.1:c.842+56G>T (COPA) ENSP00000497231.1:n.842+56G>T
ENST00000649963.1:c.*531+56G>T (COPA) ENSP00000498129.1:n.*531+56G>T
ENST00000650154.1:c.*279+56G>T (COPA) ENSP00000497094.1:n.*279+56G>T
ENST00000241704.7:c.842+56G>T (COPA) ENSP00000241704.7:n.842+56G>T
ENST00000368069.7:c.842+56G>T (COPA) ENSP00000357048.3:n.842+56G>T
NM_001098398.1:c.842+56G>T (COPA) NP_001091868.1:n.842+56G>T
NM_004371.3:c.842+56G>T (COPA) NP_004362.2:n.842+56G>T
XM_011509584.1:c.-176+27343C>A (NHLH1) XP_011507886.1:n.-176+27343C>A
NM_001098398.2:c.842+56G>T (COPA) NP_001091868.1:n.842+56G>T
NM_004371.4:c.842+56G>T (COPA) MANE Select NP_004362.2:n.842+56G>T