Canonical Allele Identifier: CA365367968
Community Standard Title: NM_198239.2(CCN6):c.80T>A (p.Leu27Ter)
Gene: CCN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112061022T>A , CM000668.2:g.112061022T>A GRCh38
NC_000006.11:g.112382225T>A , CM000668.1:g.112382225T>A GRCh37
NC_000006.10:g.112488918T>A NCBI36
NG_011748.1:g.11948T>A

Transcript Alleles

HGVS Amino-acid Change
NM_198239.2:c.80T>A MANE Select NP_937882.2:p.Leu27Ter
ENST00000368666.7:c.80T>A MANE Select ENSP00000357655.4:p.Leu27Ter
NM_003880.3:c.80T>A NP_003871.1:p.Leu27Ter
NM_003880.4:c.80T>A NP_003871.1:p.Leu27Ter
NM_198239.1:c.134T>A NP_937882.1:p.Leu45Ter
NR_125353.1:n.270T>A
NR_125353.2:n.334T>A
NR_125354.1:n.190T>A
NR_125354.3:n.161T>A
ENST00000230529.9:c.80T>A ENSP00000230529.5:p.Leu27Ter
ENST00000361714.5:c.80T>A ENSP00000354734.2:p.Leu27Ter
ENST00000368663.4:c.80T>A ENSP00000357652.4:p.Leu27Ter
ENST00000368664.7:c.134T>A ENSP00000357653.3:p.Leu45Ter
ENST00000368666.6:c.134T>A ENSP00000357655.3:p.Leu45Ter
ENST00000409166.5:c.-507-257T>A ENSP00000386467.1:n.-507-257T>A
ENST00000454589.5:c.80T>A ENSP00000395928.1:p.Leu27Ter
ENST00000604763.5:c.80T>A ENSP00000473777.1:p.Leu27Ter
ENST00000620524.3:n.64-50T>A
XM_011536220.1:c.80T>A XP_011534522.1:p.Leu27Ter
XM_011536221.1:c.143T>A XP_011534523.1:p.Leu48Ter
XM_011536222.1:c.218T>A XP_011534524.1:p.Leu73Ter
XM_011536222.2:c.143T>A XP_011534524.2:p.Leu48Ter
XR_001743705.1:n.618T>A