Canonical Allele Identifier: CA1948368323
Community Standard Title: NM_001122630.2(CDKN1C):c.707C= (p.Ser236=)
Gene: CDKN1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2884750G= , CM000673.2:g.2884750G= GRCh38
NC_000011.9:g.2905980G= , CM000673.1:g.2905980G= GRCh37
NC_000011.8:g.2862556G= NCBI36
NG_008022.1:g.6016C= , LRG_533:g.6016C=

Transcript Alleles

HGVS Amino-acid Change
NM_001122630.2:c.707C= MANE Select NP_001116102.1:p.Ser236=
ENST00000440480.8:c.707C= MANE Select ENSP00000411257.2:p.Ser236=
NM_000076.2:c.740C= , LRG_533t1:c.740C= NP_000067.1:p.Ser247=
NM_001122630.1:c.707C= NP_001116102.1:p.Ser236=
NM_001122631.1:c.707C= NP_001116103.1:p.Ser236=
NM_001122631.2:c.707C= NP_001116103.1:p.Ser236=
NM_001362474.1:c.740C= NP_001349403.1:p.Ser247=
NM_001362474.2:c.740C= NP_001349403.1:p.Ser247=
NM_001362475.1:c.255+452C= NP_001349404.1:n.255+452C=
NM_001362475.2:c.255+452C= NP_001349404.1:n.255+452C=
ENST00000380725.1:c.255+452C= ENSP00000370101.1:n.255+452C=
ENST00000380725.2:c.255+452C= ENSP00000370101.1:n.255+452C=
ENST00000414822.7:c.740C= ENSP00000413720.3:p.Ser247=
ENST00000414822.8:c.740C= ENSP00000413720.3:p.Ser247=
ENST00000430149.2:c.740C= ENSP00000411552.2:p.Ser247=
ENST00000430149.3:c.740C= ENSP00000411552.2:p.Ser247=
ENST00000440480.6:c.707C= ENSP00000411257.2:p.Ser236=
ENST00000647251.1:c.255+452C= ENSP00000496631.1:n.255+452C=
ENST00000681969.1:n.143-616C=
XM_005252732.3:c.255+452C= XP_005252789.1:n.255+452C=