Canonical Allele Identifier: CA6219792

Gene: CTSC

Linked Data

• ClinVar Variation Id: 2080131
• ClinVar RCV Id: RCV002999058
• dbSNP Id: rs762298800
• ExAC: 11:88027568 A / G
• gnomAD v2: 11-88027568-A-G
• gnomAD v3: 11-88294400-A-G
• gnomAD v4: 11-88294400-A-G
• MyVariant Identifiers: chr11:g.88027568A>G (hg19) ; chr11:g.88294400A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294400A>G , CM000673.2:g.88294400A>G	GRCh38
NC_000011.9:g.88027568A>G , CM000673.1:g.88027568A>G	GRCh37
NC_000011.8:g.87667216A>G	NCBI36
NG_007952.1:g.48374T>C , LRG_50:g.48374T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.998T>C MANE Select	ENSP00000227266.4:p.Met333Thr
ENST00000533897.2:n.5311T>C
ENST00000676612.1:c.*805T>C	ENSP00000504440.1:n.*805T>C
ENST00000677208.1:c.*504T>C	ENSP00000504347.1:n.*504T>C
ENST00000677661.1:c.*675T>C	ENSP00000503323.1:n.*675T>C
ENST00000677802.1:c.*675T>C	ENSP00000504115.1:n.*675T>C
ENST00000678395.1:c.*504T>C	ENSP00000503123.1:n.*504T>C
ENST00000678464.1:c.965T>C	ENSP00000503046.1:p.Met322Thr
ENST00000678506.1:c.959T>C	ENSP00000503580.1:p.Met320Thr
ENST00000678520.1:c.*649T>C	ENSP00000503361.1:n.*649T>C
ENST00000678554.1:c.889+1733T>C	ENSP00000504541.1:n.889+1733T>C
ENST00000678915.1:c.866T>C	ENSP00000504805.1:p.Met289Thr
ENST00000679224.1:c.635T>C	ENSP00000504475.1:p.Met212Thr
ENST00000227266.9:c.998T>C	ENSP00000227266.4:p.Met333Thr
ENST00000533897.1:n.3732T>C
NM_001814.4:c.998T>C , LRG_50t1:c.998T>C	NP_001805.3:p.Met333Thr
NM_001814.5:c.998T>C	NP_001805.3:p.Met333Thr
NM_001814.6:c.998T>C MANE Select	NP_001805.4:p.Met333Thr