Canonical Allele Identifier: CA225417451

Gene: CTSC

Linked Data

• ClinVar Variation Id: 1121416
• ClinVar RCV Id: RCV001451706
• dbSNP Id: rs747048033
• gnomAD v3: 11-88294513-A-G
• gnomAD v4: 11-88294513-A-G
• MyVariant Identifiers: chr11:g.88027681A>G (hg19) ; chr11:g.88294513A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294513A>G , CM000673.2:g.88294513A>G	GRCh38
NC_000011.9:g.88027681A>G , CM000673.1:g.88027681A>G	GRCh37
NC_000011.8:g.87667329A>G	NCBI36
NG_007952.1:g.48261T>C , LRG_50:g.48261T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.890-5T>C MANE Select	ENSP00000227266.4:n.890-5T>C
ENST00000533897.2:n.5203-5T>C
ENST00000676612.1:c.*697-5T>C	ENSP00000504440.1:n.*697-5T>C
ENST00000677208.1:c.*396-5T>C	ENSP00000504347.1:n.*396-5T>C
ENST00000677661.1:c.*567-5T>C	ENSP00000503323.1:n.*567-5T>C
ENST00000677802.1:c.*567-5T>C	ENSP00000504115.1:n.*567-5T>C
ENST00000678395.1:c.*396-5T>C	ENSP00000503123.1:n.*396-5T>C
ENST00000678464.1:c.890-38T>C	ENSP00000503046.1:n.890-38T>C
ENST00000678506.1:c.851-5T>C	ENSP00000503580.1:n.851-5T>C
ENST00000678520.1:c.*541-5T>C	ENSP00000503361.1:n.*541-5T>C
ENST00000678554.1:c.889+1620T>C	ENSP00000504541.1:n.889+1620T>C
ENST00000678915.1:c.758-5T>C	ENSP00000504805.1:n.758-5T>C
ENST00000679224.1:c.527-5T>C	ENSP00000504475.1:n.527-5T>C
ENST00000227266.9:c.890-5T>C	ENSP00000227266.4:n.890-5T>C
ENST00000533897.1:n.3624-5T>C
NM_001814.4:c.890-5T>C , LRG_50t1:c.890-5T>C	NP_001805.3:n.890-5T>C
NM_001814.5:c.890-5T>C	NP_001805.3:n.890-5T>C
NM_001814.6:c.890-5T>C MANE Select	NP_001805.4:n.890-5T>C