Canonical Allele Identifier: CA365374628
Community Standard Title: NM_198239.2(CCN6):c.668G>C (p.Cys223Ser)
Gene: CCN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112068283G>C , CM000668.2:g.112068283G>C GRCh38
NC_000006.11:g.112389486G>C , CM000668.1:g.112389486G>C GRCh37
NC_000006.10:g.112496179G>C NCBI36
NG_011748.1:g.19209G>C

Transcript Alleles

HGVS Amino-acid Change
NM_198239.2:c.668G>C MANE Select NP_937882.2:p.Cys223Ser
ENST00000368666.7:c.668G>C MANE Select ENSP00000357655.4:p.Cys223Ser
NM_003880.3:c.668G>C NP_003871.1:p.Cys223Ser
NM_003880.4:c.668G>C NP_003871.1:p.Cys223Ser
NM_198239.1:c.722G>C NP_937882.1:p.Cys241Ser
NR_125353.1:n.922G>C
NR_125353.2:n.986G>C
NR_125354.1:n.842G>C
NR_125354.3:n.813G>C
ENST00000230529.9:c.668G>C ENSP00000230529.5:p.Cys223Ser
ENST00000361714.5:c.668G>C ENSP00000354734.2:p.Cys223Ser
ENST00000368663.4:c.667G>C ENSP00000357652.4:p.Val223Leu
ENST00000368664.7:c.*72G>C ENSP00000357653.3:n.*72G>C
ENST00000368666.6:c.722G>C ENSP00000357655.3:p.Cys241Ser
ENST00000409166.5:c.-5G>C ENSP00000386467.1:n.-5G>C
ENST00000454589.5:c.*72G>C ENSP00000395928.1:n.*72G>C
ENST00000604763.5:c.668G>C ENSP00000473777.1:p.Cys223Ser
ENST00000613648.1:n.503G>C
ENST00000620524.3:n.599G>C
ENST00000639360.1:c.569G>C ENSP00000491774.1:p.Cys190Ser
XM_011536220.1:c.668G>C XP_011534522.1:p.Cys223Ser
XM_011536221.1:c.*72G>C XP_011534523.1:n.*72G>C
XM_011536223.1:c.86G>C XP_011534525.1:p.Cys29Ser
XM_011536223.3:c.86G>C XP_011534525.1:p.Cys29Ser
XR_001743705.1:n.1270G>C