Canonical Allele Identifier: CA382022198

Gene: CTSC

Linked Data

• dbSNP Id: rs1294233227
• gnomAD v2: 11-88027610-T-C
• gnomAD v3: 11-88294442-T-C
• gnomAD v4: 11-88294442-T-C
• MyVariant Identifiers: chr11:g.88027610T>C (hg19) ; chr11:g.88294442T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294442T>C , CM000673.2:g.88294442T>C	GRCh38
NC_000011.9:g.88027610T>C , CM000673.1:g.88027610T>C	GRCh37
NC_000011.8:g.87667258T>C	NCBI36
NG_007952.1:g.48332A>G , LRG_50:g.48332A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.956A>G MANE Select	ENSP00000227266.4:p.Glu319Gly
ENST00000533897.2:n.5269A>G
ENST00000676612.1:c.*763A>G	ENSP00000504440.1:n.*763A>G
ENST00000677208.1:c.*462A>G	ENSP00000504347.1:n.*462A>G
ENST00000677661.1:c.*633A>G	ENSP00000503323.1:n.*633A>G
ENST00000677802.1:c.*633A>G	ENSP00000504115.1:n.*633A>G
ENST00000678395.1:c.*462A>G	ENSP00000503123.1:n.*462A>G
ENST00000678464.1:c.923A>G	ENSP00000503046.1:p.Glu308Gly
ENST00000678506.1:c.917A>G	ENSP00000503580.1:p.Glu306Gly
ENST00000678520.1:c.*607A>G	ENSP00000503361.1:n.*607A>G
ENST00000678554.1:c.889+1691A>G	ENSP00000504541.1:n.889+1691A>G
ENST00000678915.1:c.824A>G	ENSP00000504805.1:p.Glu275Gly
ENST00000679224.1:c.593A>G	ENSP00000504475.1:p.Glu198Gly
ENST00000227266.9:c.956A>G	ENSP00000227266.4:p.Glu319Gly
ENST00000533897.1:n.3690A>G
NM_001814.4:c.956A>G , LRG_50t1:c.956A>G	NP_001805.3:p.Glu319Gly
NM_001814.5:c.956A>G	NP_001805.3:p.Glu319Gly
NM_001814.6:c.956A>G MANE Select	NP_001805.4:p.Glu319Gly