Canonical Allele Identifier: CA382022219

Gene: CTSC

Linked Data

• ClinVar Variation Id: 1395626
• ClinVar RCV Id: RCV001891429
• MyVariant Identifiers: chr11:g.88027620G>C (hg19) ; chr11:g.88294452G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294452G>C , CM000673.2:g.88294452G>C	GRCh38
NC_000011.9:g.88027620G>C , CM000673.1:g.88027620G>C	GRCh37
NC_000011.8:g.87667268G>C	NCBI36
NG_007952.1:g.48322C>G , LRG_50:g.48322C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.946C>G MANE Select	ENSP00000227266.4:p.Leu316Val
ENST00000533897.2:n.5259C>G
ENST00000676612.1:c.*753C>G	ENSP00000504440.1:n.*753C>G
ENST00000677208.1:c.*452C>G	ENSP00000504347.1:n.*452C>G
ENST00000677661.1:c.*623C>G	ENSP00000503323.1:n.*623C>G
ENST00000677802.1:c.*623C>G	ENSP00000504115.1:n.*623C>G
ENST00000678395.1:c.*452C>G	ENSP00000503123.1:n.*452C>G
ENST00000678464.1:c.913C>G	ENSP00000503046.1:p.Leu305Val
ENST00000678506.1:c.907C>G	ENSP00000503580.1:p.Leu303Val
ENST00000678520.1:c.*597C>G	ENSP00000503361.1:n.*597C>G
ENST00000678554.1:c.889+1681C>G	ENSP00000504541.1:n.889+1681C>G
ENST00000678915.1:c.814C>G	ENSP00000504805.1:p.Leu272Val
ENST00000679224.1:c.583C>G	ENSP00000504475.1:p.Leu195Val
ENST00000227266.9:c.946C>G	ENSP00000227266.4:p.Leu316Val
ENST00000533897.1:n.3680C>G
NM_001814.4:c.946C>G , LRG_50t1:c.946C>G	NP_001805.3:p.Leu316Val
NM_001814.5:c.946C>G	NP_001805.3:p.Leu316Val
NM_001814.6:c.946C>G MANE Select	NP_001805.4:p.Leu316Val