Canonical Allele Identifier: CA382022043

Gene: CTSC

Linked Data

• ClinVar Variation Id: 2105562
• ClinVar RCV Id: RCV003014957
• MyVariant Identifiers: chr11:g.88027542A>C (hg19) ; chr11:g.88294374A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294374A>C , CM000673.2:g.88294374A>C	GRCh38
NC_000011.9:g.88027542A>C , CM000673.1:g.88027542A>C	GRCh37
NC_000011.8:g.87667190A>C	NCBI36
NG_007952.1:g.48400T>G , LRG_50:g.48400T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1024T>G MANE Select	ENSP00000227266.4:p.Ser342Ala
ENST00000533897.2:n.5337T>G
ENST00000676612.1:c.*831T>G	ENSP00000504440.1:n.*831T>G
ENST00000677208.1:c.*530T>G	ENSP00000504347.1:n.*530T>G
ENST00000677661.1:c.*701T>G	ENSP00000503323.1:n.*701T>G
ENST00000677802.1:c.*701T>G	ENSP00000504115.1:n.*701T>G
ENST00000678395.1:c.*530T>G	ENSP00000503123.1:n.*530T>G
ENST00000678464.1:c.991T>G	ENSP00000503046.1:p.Ser331Ala
ENST00000678506.1:c.985T>G	ENSP00000503580.1:p.Ser329Ala
ENST00000678520.1:c.*675T>G	ENSP00000503361.1:n.*675T>G
ENST00000678554.1:c.889+1759T>G	ENSP00000504541.1:n.889+1759T>G
ENST00000678915.1:c.892T>G	ENSP00000504805.1:p.Ser298Ala
ENST00000679224.1:c.661T>G	ENSP00000504475.1:p.Ser221Ala
ENST00000227266.9:c.1024T>G	ENSP00000227266.4:p.Ser342Ala
ENST00000533897.1:n.3758T>G
NM_001814.4:c.1024T>G , LRG_50t1:c.1024T>G	NP_001805.3:p.Ser342Ala
NM_001814.5:c.1024T>G	NP_001805.3:p.Ser342Ala
NM_001814.6:c.1024T>G MANE Select	NP_001805.4:p.Ser342Ala