Canonical Allele Identifier: CA365372689
Community Standard Title: NM_198239.2(CCN6):c.589G>C (p.Ala197Pro)
Gene: CCN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112064997G>C , CM000668.2:g.112064997G>C GRCh38
NC_000006.11:g.112386200G>C , CM000668.1:g.112386200G>C GRCh37
NC_000006.10:g.112492893G>C NCBI36
NG_011748.1:g.15923G>C

Transcript Alleles

HGVS Amino-acid Change
NM_198239.2:c.589G>C MANE Select NP_937882.2:p.Ala197Pro
ENST00000368666.7:c.589G>C MANE Select ENSP00000357655.4:p.Ala197Pro
NM_003880.3:c.589G>C NP_003871.1:p.Ala197Pro
NM_003880.4:c.589G>C NP_003871.1:p.Ala197Pro
NM_198239.1:c.643G>C NP_937882.1:p.Ala215Pro
NR_125353.1:n.779G>C
NR_125353.2:n.843G>C
NR_125354.1:n.699G>C
NR_125354.3:n.670G>C
ENST00000230529.9:c.589G>C ENSP00000230529.5:p.Ala197Pro
ENST00000361714.5:c.589G>C ENSP00000354734.2:p.Ala197Pro
ENST00000368663.4:c.589G>C ENSP00000357652.4:p.Ala197Pro
ENST00000368664.7:c.643G>C ENSP00000357653.3:p.Asp215His
ENST00000368666.6:c.643G>C ENSP00000357655.3:p.Ala215Pro
ENST00000409166.5:c.-148G>C ENSP00000386467.1:n.-148G>C
ENST00000454589.5:c.589G>C ENSP00000395928.1:p.Asp197His
ENST00000604763.5:c.589G>C ENSP00000473777.1:p.Ala197Pro
ENST00000613648.1:n.360G>C
ENST00000620524.3:n.520G>C
ENST00000639360.1:c.490G>C ENSP00000491774.1:p.Ala164Pro
XM_011536220.1:c.589G>C XP_011534522.1:p.Ala197Pro
XM_011536221.1:c.652G>C XP_011534523.1:p.Asp218His
XM_011536222.1:c.516+211G>C XP_011534524.1:n.516+211G>C
XM_011536222.2:c.441+211G>C XP_011534524.2:n.441+211G>C
XM_011536223.1:c.7G>C XP_011534525.1:p.Ala3Pro
XM_011536223.3:c.7G>C XP_011534525.1:p.Ala3Pro
XR_001743705.1:n.1127G>C