Canonical Allele Identifier: CA382022208

Gene: CTSC

Linked Data

• ClinVar Variation Id: 2010369
• ClinVar RCV Id: RCV002833937
• COSMIC: COSM3870363
• MyVariant Identifiers: chr11:g.88027614C>T (hg19) ; chr11:g.88294446C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294446C>T , CM000673.2:g.88294446C>T	GRCh38
NC_000011.9:g.88027614C>T , CM000673.1:g.88027614C>T	GRCh37
NC_000011.8:g.87667262C>T	NCBI36
NG_007952.1:g.48328G>A , LRG_50:g.48328G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.952G>A MANE Select	ENSP00000227266.4:p.Glu318Lys
ENST00000533897.2:n.5265G>A
ENST00000676612.1:c.*759G>A	ENSP00000504440.1:n.*759G>A
ENST00000677208.1:c.*458G>A	ENSP00000504347.1:n.*458G>A
ENST00000677661.1:c.*629G>A	ENSP00000503323.1:n.*629G>A
ENST00000677802.1:c.*629G>A	ENSP00000504115.1:n.*629G>A
ENST00000678395.1:c.*458G>A	ENSP00000503123.1:n.*458G>A
ENST00000678464.1:c.919G>A	ENSP00000503046.1:p.Glu307Lys
ENST00000678506.1:c.913G>A	ENSP00000503580.1:p.Glu305Lys
ENST00000678520.1:c.*603G>A	ENSP00000503361.1:n.*603G>A
ENST00000678554.1:c.889+1687G>A	ENSP00000504541.1:n.889+1687G>A
ENST00000678915.1:c.820G>A	ENSP00000504805.1:p.Glu274Lys
ENST00000679224.1:c.589G>A	ENSP00000504475.1:p.Glu197Lys
ENST00000227266.9:c.952G>A	ENSP00000227266.4:p.Glu318Lys
ENST00000533897.1:n.3686G>A
NM_001814.4:c.952G>A , LRG_50t1:c.952G>A	NP_001805.3:p.Glu318Lys
NM_001814.5:c.952G>A	NP_001805.3:p.Glu318Lys
NM_001814.6:c.952G>A MANE Select	NP_001805.4:p.Glu318Lys