Canonical Allele Identifier: CA31513877

Linked Data

dbSNP Id: rs575202361

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160313776T>G , CM000663.2:g.160313776T>G GRCh38
NC_000001.10:g.160283566T>G , CM000663.1:g.160283566T>G GRCh37
NC_000001.9:g.158550190T>G NCBI36
NG_050927.1:g.34789A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696202.1:n.514+214A>C (COPA)
ENST00000696203.1:n.3326+214A>C (COPA)
ENST00000696204.1:n.3533+214A>C (COPA)
ENST00000696206.1:n.613+214A>C (COPA)
ENST00000696207.1:n.839+214A>C (COPA)
ENST00000696208.1:n.945+214A>C (COPA)
ENST00000696209.1:n.1238+214A>C (COPA)
ENST00000696210.1:n.1238+214A>C (COPA)
ENST00000696211.1:n.1238+214A>C (COPA)
ENST00000696212.1:n.3526+214A>C (COPA)
ENST00000696213.1:n.1969+214A>C (COPA)
ENST00000696214.1:n.3552+214A>C (COPA)
ENST00000696215.1:n.945+214A>C (COPA)
ENST00000241704.8:c.842+214A>C (COPA) MANE Select ENSP00000241704.7:n.842+214A>C
ENST00000647683.1:c.842+214A>C (COPA) ENSP00000497495.1:n.842+214A>C
ENST00000647693.1:n.1926+214A>C (COPA)
ENST00000647799.1:c.*279+214A>C (COPA) ENSP00000497970.1:n.*279+214A>C
ENST00000647899.1:c.361+214A>C (COPA)
ENST00000648501.1:c.316-609A>C (COPA)
ENST00000648805.1:c.842+214A>C (COPA) ENSP00000497433.1:n.842+214A>C
ENST00000649231.1:c.842+214A>C (COPA) ENSP00000498061.1:n.842+214A>C
ENST00000649676.1:c.389+214A>C (COPA) ENSP00000497257.1:n.389+214A>C
ENST00000649787.1:c.842+214A>C (COPA) ENSP00000497231.1:n.842+214A>C
ENST00000649963.1:c.*531+214A>C (COPA) ENSP00000498129.1:n.*531+214A>C
ENST00000650154.1:c.*279+214A>C (COPA) ENSP00000497094.1:n.*279+214A>C
ENST00000241704.7:c.842+214A>C (COPA) ENSP00000241704.7:n.842+214A>C
ENST00000368069.7:c.842+214A>C (COPA) ENSP00000357048.3:n.842+214A>C
NM_001098398.1:c.842+214A>C (COPA) NP_001091868.1:n.842+214A>C
NM_004371.3:c.842+214A>C (COPA) NP_004362.2:n.842+214A>C
XM_011509584.1:c.-176+27185T>G (NHLH1) XP_011507886.1:n.-176+27185T>G
NM_001098398.2:c.842+214A>C (COPA) NP_001091868.1:n.842+214A>C
NM_004371.4:c.842+214A>C (COPA) MANE Select NP_004362.2:n.842+214A>C