Canonical Allele Identifier: CA379146800

Gene: CDKN1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2885102C>A , CM000673.2:g.2885102C>A	GRCh38
NC_000011.9:g.2906332C>A , CM000673.1:g.2906332C>A	GRCh37
NC_000011.8:g.2862908C>A	NCBI36
NG_008022.1:g.5664G>T , LRG_533:g.5664G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001122630.2:c.355G>T MANE Select	NP_001116102.1:p.Glu119Ter
ENST00000440480.8:c.355G>T MANE Select	ENSP00000411257.2:p.Glu119Ter
NM_000076.2:c.388G>T , LRG_533t1:c.388G>T	NP_000067.1:p.Glu130Ter
NM_001122630.1:c.355G>T	NP_001116102.1:p.Glu119Ter
NM_001122631.1:c.355G>T	NP_001116103.1:p.Glu119Ter
NM_001122631.2:c.355G>T	NP_001116103.1:p.Glu119Ter
NM_001362474.1:c.388G>T	NP_001349403.1:p.Glu130Ter
NM_001362474.2:c.388G>T	NP_001349403.1:p.Glu130Ter
NM_001362475.1:c.255+100G>T	NP_001349404.1:n.255+100G>T
NM_001362475.2:c.255+100G>T	NP_001349404.1:n.255+100G>T
ENST00000380725.1:c.255+100G>T	ENSP00000370101.1:n.255+100G>T
ENST00000380725.2:c.255+100G>T	ENSP00000370101.1:n.255+100G>T
ENST00000414822.7:c.388G>T	ENSP00000413720.3:p.Glu130Ter
ENST00000414822.8:c.388G>T	ENSP00000413720.3:p.Glu130Ter
ENST00000430149.2:c.388G>T	ENSP00000411552.2:p.Glu130Ter
ENST00000430149.3:c.388G>T	ENSP00000411552.2:p.Glu130Ter
ENST00000440480.6:c.355G>T	ENSP00000411257.2:p.Glu119Ter
ENST00000647251.1:c.255+100G>T	ENSP00000496631.1:n.255+100G>T
ENST00000681969.1:n.142+532G>T
XM_005252732.3:c.255+100G>T	XP_005252789.1:n.255+100G>T