Canonical Allele Identifier: CA382022050

Gene: CTSC

Linked Data

• dbSNP Id: rs1944276010
• gnomAD v3: 11-88294376-T-G
• gnomAD v4: 11-88294376-T-G
• MyVariant Identifiers: chr11:g.88027544T>G (hg19) ; chr11:g.88294376T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294376T>G , CM000673.2:g.88294376T>G	GRCh38
NC_000011.9:g.88027544T>G , CM000673.1:g.88027544T>G	GRCh37
NC_000011.8:g.87667192T>G	NCBI36
NG_007952.1:g.48398A>C , LRG_50:g.48398A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1022A>C MANE Select	ENSP00000227266.4:p.Tyr341Ser
ENST00000533897.2:n.5335A>C
ENST00000676612.1:c.*829A>C	ENSP00000504440.1:n.*829A>C
ENST00000677208.1:c.*528A>C	ENSP00000504347.1:n.*528A>C
ENST00000677661.1:c.*699A>C	ENSP00000503323.1:n.*699A>C
ENST00000677802.1:c.*699A>C	ENSP00000504115.1:n.*699A>C
ENST00000678395.1:c.*528A>C	ENSP00000503123.1:n.*528A>C
ENST00000678464.1:c.989A>C	ENSP00000503046.1:p.Tyr330Ser
ENST00000678506.1:c.983A>C	ENSP00000503580.1:p.Tyr328Ser
ENST00000678520.1:c.*673A>C	ENSP00000503361.1:n.*673A>C
ENST00000678554.1:c.889+1757A>C	ENSP00000504541.1:n.889+1757A>C
ENST00000678915.1:c.890A>C	ENSP00000504805.1:p.Tyr297Ser
ENST00000679224.1:c.659A>C	ENSP00000504475.1:p.Tyr220Ser
ENST00000227266.9:c.1022A>C	ENSP00000227266.4:p.Tyr341Ser
ENST00000533897.1:n.3756A>C
NM_001814.4:c.1022A>C , LRG_50t1:c.1022A>C	NP_001805.3:p.Tyr341Ser
NM_001814.5:c.1022A>C	NP_001805.3:p.Tyr341Ser
NM_001814.6:c.1022A>C MANE Select	NP_001805.4:p.Tyr341Ser