Canonical Allele Identifier: CA365375196
Community Standard Title: NM_198239.2(CCN6):c.737T>C (p.Leu246Pro)
Gene: CCN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112068352T>C , CM000668.2:g.112068352T>C GRCh38
NC_000006.11:g.112389555T>C , CM000668.1:g.112389555T>C GRCh37
NC_000006.10:g.112496248T>C NCBI36
NG_011748.1:g.19278T>C

Transcript Alleles

HGVS Amino-acid Change
NM_198239.2:c.737T>C MANE Select NP_937882.2:p.Leu246Pro
ENST00000368666.7:c.737T>C MANE Select ENSP00000357655.4:p.Leu246Pro
NM_003880.3:c.737T>C NP_003871.1:p.Leu246Pro
NM_003880.4:c.737T>C NP_003871.1:p.Leu246Pro
NM_198239.1:c.791T>C NP_937882.1:p.Leu264Pro
NR_125353.1:n.991T>C
NR_125353.2:n.1055T>C
NR_125354.1:n.911T>C
NR_125354.3:n.882T>C
ENST00000230529.9:c.737T>C ENSP00000230529.5:p.Leu246Pro
ENST00000361714.5:c.737T>C ENSP00000354734.2:p.Leu246Pro
ENST00000368663.4:c.*43T>C ENSP00000357652.4:n.*43T>C
ENST00000368664.7:c.*141T>C ENSP00000357653.3:n.*141T>C
ENST00000368666.6:c.791T>C ENSP00000357655.3:p.Leu264Pro
ENST00000409166.5:c.65T>C ENSP00000386467.1:p.Leu22Pro
ENST00000454589.5:c.*141T>C ENSP00000395928.1:n.*141T>C
ENST00000604763.5:c.737T>C ENSP00000473777.1:p.Leu246Pro
ENST00000613648.1:n.572T>C
ENST00000620524.3:n.668T>C
ENST00000639360.1:c.638T>C ENSP00000491774.1:p.Leu213Pro
XM_011536220.1:c.737T>C XP_011534522.1:p.Leu246Pro
XM_011536221.1:c.*141T>C XP_011534523.1:n.*141T>C
XM_011536223.1:c.155T>C XP_011534525.1:p.Leu52Pro
XM_011536223.3:c.155T>C XP_011534525.1:p.Leu52Pro
XR_001743705.1:n.1339T>C