Canonical Allele Identifier: CA343263585

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160313999A>G , CM000663.2:g.160313999A>G GRCh38
NC_000001.10:g.160283789A>G , CM000663.1:g.160283789A>G GRCh37
NC_000001.9:g.158550413A>G NCBI36
NG_050927.1:g.34566T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696202.1:n.505T>C (COPA)
ENST00000696203.1:n.3317T>C (COPA)
ENST00000696204.1:n.3524T>C (COPA)
ENST00000696206.1:n.604T>C (COPA)
ENST00000696207.1:n.830T>C (COPA)
ENST00000696208.1:n.936T>C (COPA)
ENST00000696209.1:n.1229T>C (COPA)
ENST00000696210.1:n.1229T>C (COPA)
ENST00000696211.1:n.1229T>C (COPA)
ENST00000696212.1:n.3517T>C (COPA)
ENST00000696213.1:n.1960T>C (COPA)
ENST00000696214.1:n.3543T>C (COPA)
ENST00000696215.1:n.936T>C (COPA)
ENST00000241704.8:c.833T>C (COPA) MANE Select ENSP00000241704.7:p.Met278Thr
ENST00000647683.1:c.833T>C (COPA) ENSP00000497495.1:p.Met278Thr
ENST00000647693.1:n.1917T>C (COPA)
ENST00000647799.1:c.*270T>C (COPA) ENSP00000497970.1:n.*270T>C
ENST00000647899.1:c.352T>C (COPA)
ENST00000648501.1:c.316-832T>C (COPA)
ENST00000648805.1:c.833T>C (COPA) ENSP00000497433.1:p.Met278Thr
ENST00000649231.1:c.833T>C (COPA) ENSP00000498061.1:p.Met278Thr
ENST00000649676.1:c.380T>C (COPA) ENSP00000497257.1:p.Met127Thr
ENST00000649787.1:c.833T>C (COPA) ENSP00000497231.1:p.Met278Thr
ENST00000649963.1:c.*522T>C (COPA) ENSP00000498129.1:n.*522T>C
ENST00000650154.1:c.*270T>C (COPA) ENSP00000497094.1:n.*270T>C
ENST00000241704.7:c.833T>C (COPA) ENSP00000241704.7:p.Met278Thr
ENST00000368069.7:c.833T>C (COPA) ENSP00000357048.3:p.Met278Thr
NM_001098398.1:c.833T>C (COPA) NP_001091868.1:p.Met278Thr
NM_004371.3:c.833T>C (COPA) NP_004362.2:p.Met278Thr
XM_011509584.1:c.-176+27408A>G (NHLH1) XP_011507886.1:n.-176+27408A>G
NM_001098398.2:c.833T>C (COPA) NP_001091868.1:p.Met278Thr
NM_004371.4:c.833T>C (COPA) MANE Select NP_004362.2:p.Met278Thr