Canonical Allele Identifier: CA365374625
Community Standard Title: NM_198239.2(CCN6):c.667T>G (p.Cys223Gly)
Gene: CCN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112068282T>G , CM000668.2:g.112068282T>G GRCh38
NC_000006.11:g.112389485T>G , CM000668.1:g.112389485T>G GRCh37
NC_000006.10:g.112496178T>G NCBI36
NG_011748.1:g.19208T>G

Transcript Alleles

HGVS Amino-acid Change
NM_198239.2:c.667T>G MANE Select NP_937882.2:p.Cys223Gly
ENST00000368666.7:c.667T>G MANE Select ENSP00000357655.4:p.Cys223Gly
NM_003880.3:c.667T>G NP_003871.1:p.Cys223Gly
NM_003880.4:c.667T>G NP_003871.1:p.Cys223Gly
NM_198239.1:c.721T>G NP_937882.1:p.Cys241Gly
NR_125353.1:n.921T>G
NR_125353.2:n.985T>G
NR_125354.1:n.841T>G
NR_125354.3:n.812T>G
ENST00000230529.9:c.667T>G ENSP00000230529.5:p.Cys223Gly
ENST00000361714.5:c.667T>G ENSP00000354734.2:p.Cys223Gly
ENST00000368663.4:c.666T>G ENSP00000357652.4:p.His222Gln
ENST00000368664.7:c.*71T>G ENSP00000357653.3:n.*71T>G
ENST00000368666.6:c.721T>G ENSP00000357655.3:p.Cys241Gly
ENST00000409166.5:c.-6T>G ENSP00000386467.1:n.-6T>G
ENST00000454589.5:c.*71T>G ENSP00000395928.1:n.*71T>G
ENST00000604763.5:c.667T>G ENSP00000473777.1:p.Cys223Gly
ENST00000613648.1:n.502T>G
ENST00000620524.3:n.598T>G
ENST00000639360.1:c.568T>G ENSP00000491774.1:p.Cys190Gly
XM_011536220.1:c.667T>G XP_011534522.1:p.Cys223Gly
XM_011536221.1:c.*71T>G XP_011534523.1:n.*71T>G
XM_011536223.1:c.85T>G XP_011534525.1:p.Cys29Gly
XM_011536223.3:c.85T>G XP_011534525.1:p.Cys29Gly
XR_001743705.1:n.1269T>G