Canonical Allele Identifier: CA382026290

Gene: CTSC

Linked Data

• ClinVar Variation Id: 2944836
• ClinVar RCV Id: RCV003808538
• dbSNP Id: rs1171989505
• gnomAD v2: 11-88045563-G-A
• gnomAD v3: 11-88312395-G-A
• gnomAD v4: 11-88312395-G-A
• MyVariant Identifiers: chr11:g.88045563G>A (hg19) ; chr11:g.88312395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88312395G>A , CM000673.2:g.88312395G>A	GRCh38
NC_000011.9:g.88045563G>A , CM000673.1:g.88045563G>A	GRCh37
NC_000011.8:g.87685211G>A	NCBI36
NG_007952.1:g.30379C>T , LRG_50:g.30379C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.478C>T MANE Select	ENSP00000227266.4:p.Gln160Ter
ENST00000527018.6:c.478C>T	ENSP00000432556.2:p.Gln160Ter
ENST00000533897.2:n.526C>T
ENST00000676612.1:c.*285C>T	ENSP00000504440.1:n.*285C>T
ENST00000677208.1:c.319-3077C>T	ENSP00000504347.1:n.319-3077C>T
ENST00000677661.1:c.*155C>T	ENSP00000503323.1:n.*155C>T
ENST00000677802.1:c.*155C>T	ENSP00000504115.1:n.*155C>T
ENST00000678395.1:c.423+55C>T	ENSP00000503123.1:n.423+55C>T
ENST00000678464.1:c.478C>T	ENSP00000503046.1:p.Gln160Ter
ENST00000678506.1:c.446+32C>T	ENSP00000503580.1:n.446+32C>T
ENST00000678520.1:c.*285C>T	ENSP00000503361.1:n.*285C>T
ENST00000678554.1:c.478C>T	ENSP00000504541.1:p.Gln160Ter
ENST00000678915.1:c.478C>T	ENSP00000504805.1:p.Gln160Ter
ENST00000679224.1:c.115C>T	ENSP00000504475.1:p.Gln39Ter
ENST00000227266.9:c.478C>T	ENSP00000227266.4:p.Gln160Ter
ENST00000527018.5:c.348C>T
ENST00000533865.5:n.500C>T
NM_001814.4:c.478C>T , LRG_50t1:c.478C>T	NP_001805.3:p.Gln160Ter
NM_001814.5:c.478C>T	NP_001805.3:p.Gln160Ter
NM_001814.6:c.478C>T MANE Select	NP_001805.4:p.Gln160Ter