Canonical Allele Identifier: CA379144889

Gene: CDKN1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884070A>G , CM000673.2:g.2884070A>G	GRCh38
NC_000011.9:g.2905300A>G , CM000673.1:g.2905300A>G	GRCh37
NC_000011.8:g.2861876A>G	NCBI36
NG_008022.1:g.6696T>C , LRG_533:g.6696T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001122630.2:c.852T>C MANE Select	NP_001116102.1:p.Cys284=
ENST00000440480.8:c.852T>C MANE Select	ENSP00000411257.2:p.Cys284=
NM_000076.2:c.885T>C , LRG_533t1:c.885T>C	NP_000067.1:p.Cys295=
NM_001122630.1:c.852T>C	NP_001116102.1:p.Cys284=
NM_001122631.1:c.852T>C	NP_001116103.1:p.Cys284=
NM_001122631.2:c.852T>C	NP_001116103.1:p.Cys284=
NM_001362474.1:c.885T>C	NP_001349403.1:p.Cys295=
NM_001362474.2:c.885T>C	NP_001349403.1:p.Cys295=
NM_001362475.1:c.320T>C	NP_001349404.1:p.Val107Ala
NM_001362475.2:c.320T>C	NP_001349404.1:p.Val107Ala
ENST00000380725.1:c.320T>C	ENSP00000370101.1:p.Val107Ala
ENST00000380725.2:c.320T>C	ENSP00000370101.1:p.Val107Ala
ENST00000414822.7:c.885T>C	ENSP00000413720.3:p.Cys295=
ENST00000414822.8:c.885T>C	ENSP00000413720.3:p.Cys295=
ENST00000430149.2:c.885T>C	ENSP00000411552.2:p.Cys295=
ENST00000430149.3:c.885T>C	ENSP00000411552.2:p.Cys295=
ENST00000440480.6:c.852T>C	ENSP00000411257.2:p.Cys284=
ENST00000471157.2:n.632T>C
ENST00000647251.1:c.320T>C	ENSP00000496631.1:p.Val107Ala
ENST00000681969.1:n.207T>C
XM_005252732.3:c.320T>C	XP_005252789.1:p.Val107Ala