Canonical Allele Identifier: CA382022041

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027541G>C (hg19) ; chr11:g.88294373G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294373G>C , CM000673.2:g.88294373G>C	GRCh38
NC_000011.9:g.88027541G>C , CM000673.1:g.88027541G>C	GRCh37
NC_000011.8:g.87667189G>C	NCBI36
NG_007952.1:g.48401C>G , LRG_50:g.48401C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1025C>G MANE Select	ENSP00000227266.4:p.Ser342Cys
ENST00000533897.2:n.5338C>G
ENST00000676612.1:c.*832C>G	ENSP00000504440.1:n.*832C>G
ENST00000677208.1:c.*531C>G	ENSP00000504347.1:n.*531C>G
ENST00000677661.1:c.*702C>G	ENSP00000503323.1:n.*702C>G
ENST00000677802.1:c.*702C>G	ENSP00000504115.1:n.*702C>G
ENST00000678395.1:c.*531C>G	ENSP00000503123.1:n.*531C>G
ENST00000678464.1:c.992C>G	ENSP00000503046.1:p.Ser331Cys
ENST00000678506.1:c.986C>G	ENSP00000503580.1:p.Ser329Cys
ENST00000678520.1:c.*676C>G	ENSP00000503361.1:n.*676C>G
ENST00000678554.1:c.889+1760C>G	ENSP00000504541.1:n.889+1760C>G
ENST00000678915.1:c.893C>G	ENSP00000504805.1:p.Ser298Cys
ENST00000679224.1:c.662C>G	ENSP00000504475.1:p.Ser221Cys
ENST00000227266.9:c.1025C>G	ENSP00000227266.4:p.Ser342Cys
ENST00000533897.1:n.3759C>G
NM_001814.4:c.1025C>G , LRG_50t1:c.1025C>G	NP_001805.3:p.Ser342Cys
NM_001814.5:c.1025C>G	NP_001805.3:p.Ser342Cys
NM_001814.6:c.1025C>G MANE Select	NP_001805.4:p.Ser342Cys