Canonical Allele Identifier: CA6219783

Gene: CTSC

Linked Data

• ClinVar Variation Id: 1420729
• ClinVar RCV Id: RCV001943617
• dbSNP Id: rs747779747
• ExAC: 11:88027511 T / C
• gnomAD v2: 11-88027511-T-C
• gnomAD v3: 11-88294343-T-C
• gnomAD v4: 11-88294343-T-C
• MyVariant Identifiers: chr11:g.88027511T>C (hg19) ; chr11:g.88294343T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294343T>C , CM000673.2:g.88294343T>C	GRCh38
NC_000011.9:g.88027511T>C , CM000673.1:g.88027511T>C	GRCh37
NC_000011.8:g.87667159T>C	NCBI36
NG_007952.1:g.48431A>G , LRG_50:g.48431A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1055A>G MANE Select	ENSP00000227266.4:p.Tyr352Cys
ENST00000533897.2:n.5368A>G
ENST00000676612.1:c.*862A>G	ENSP00000504440.1:n.*862A>G
ENST00000677208.1:c.*561A>G	ENSP00000504347.1:n.*561A>G
ENST00000677661.1:c.*732A>G	ENSP00000503323.1:n.*732A>G
ENST00000677802.1:c.*732A>G	ENSP00000504115.1:n.*732A>G
ENST00000678395.1:c.*561A>G	ENSP00000503123.1:n.*561A>G
ENST00000678464.1:c.1022A>G	ENSP00000503046.1:p.Tyr341Cys
ENST00000678506.1:c.1016A>G	ENSP00000503580.1:p.Tyr339Cys
ENST00000678520.1:c.*706A>G	ENSP00000503361.1:n.*706A>G
ENST00000678554.1:c.889+1790A>G	ENSP00000504541.1:n.889+1790A>G
ENST00000678915.1:c.923A>G	ENSP00000504805.1:p.Tyr308Cys
ENST00000679224.1:c.692A>G	ENSP00000504475.1:p.Tyr231Cys
ENST00000227266.9:c.1055A>G	ENSP00000227266.4:p.Tyr352Cys
ENST00000533897.1:n.3789A>G
NM_001814.4:c.1055A>G , LRG_50t1:c.1055A>G	NP_001805.3:p.Tyr352Cys
NM_001814.5:c.1055A>G	NP_001805.3:p.Tyr352Cys
NM_001814.6:c.1055A>G MANE Select	NP_001805.4:p.Tyr352Cys