Canonical Allele Identifier: CA379147649
Gene: CDKN1C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2885356T>G , CM000673.2:g.2885356T>G GRCh38
NC_000011.9:g.2906586T>G , CM000673.1:g.2906586T>G GRCh37
NC_000011.8:g.2863162T>G NCBI36
NG_008022.1:g.5410A>C , LRG_533:g.5410A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000681969.1:n.142+278A>C
ENST00000380725.2:c.101A>C ENSP00000370101.1:p.Glu34Ala
ENST00000414822.8:c.134A>C ENSP00000413720.3:p.Glu45Ala
ENST00000430149.3:c.134A>C ENSP00000411552.2:p.Glu45Ala
ENST00000440480.8:c.101A>C MANE Select ENSP00000411257.2:p.Glu34Ala
ENST00000647251.1:c.101A>C ENSP00000496631.1:p.Glu34Ala
ENST00000380725.1:c.101A>C ENSP00000370101.1:p.Glu34Ala
ENST00000414822.7:c.134A>C ENSP00000413720.3:p.Glu45Ala
ENST00000430149.2:c.134A>C ENSP00000411552.2:p.Glu45Ala
ENST00000440480.6:c.101A>C ENSP00000411257.2:p.Glu34Ala
NM_000076.2:c.134A>C , LRG_533t1:c.134A>C NP_000067.1:p.Glu45Ala
NM_001122630.1:c.101A>C NP_001116102.1:p.Glu34Ala
NM_001122631.1:c.101A>C NP_001116103.1:p.Glu34Ala
XM_005252732.3:c.101A>C XP_005252789.1:p.Glu34Ala
NM_001362474.1:c.134A>C NP_001349403.1:p.Glu45Ala
NM_001362475.1:c.101A>C NP_001349404.1:p.Glu34Ala
NM_001122630.2:c.101A>C MANE Select NP_001116102.1:p.Glu34Ala
NM_001122631.2:c.101A>C NP_001116103.1:p.Glu34Ala
NM_001362474.2:c.134A>C NP_001349403.1:p.Glu45Ala
NM_001362475.2:c.101A>C NP_001349404.1:p.Glu34Ala