Canonical Allele Identifier: CA382022123

Gene: CTSC

Linked Data

• gnomAD v4: 11-88294407-A-G
• MyVariant Identifiers: chr11:g.88027575A>G (hg19) ; chr11:g.88294407A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294407A>G , CM000673.2:g.88294407A>G	GRCh38
NC_000011.9:g.88027575A>G , CM000673.1:g.88027575A>G	GRCh37
NC_000011.8:g.87667223A>G	NCBI36
NG_007952.1:g.48367T>C , LRG_50:g.48367T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.991T>C MANE Select	ENSP00000227266.4:p.Cys331Arg
ENST00000533897.2:n.5304T>C
ENST00000676612.1:c.*798T>C	ENSP00000504440.1:n.*798T>C
ENST00000677208.1:c.*497T>C	ENSP00000504347.1:n.*497T>C
ENST00000677661.1:c.*668T>C	ENSP00000503323.1:n.*668T>C
ENST00000677802.1:c.*668T>C	ENSP00000504115.1:n.*668T>C
ENST00000678395.1:c.*497T>C	ENSP00000503123.1:n.*497T>C
ENST00000678464.1:c.958T>C	ENSP00000503046.1:p.Cys320Arg
ENST00000678506.1:c.952T>C	ENSP00000503580.1:p.Cys318Arg
ENST00000678520.1:c.*642T>C	ENSP00000503361.1:n.*642T>C
ENST00000678554.1:c.889+1726T>C	ENSP00000504541.1:n.889+1726T>C
ENST00000678915.1:c.859T>C	ENSP00000504805.1:p.Cys287Arg
ENST00000679224.1:c.628T>C	ENSP00000504475.1:p.Cys210Arg
ENST00000227266.9:c.991T>C	ENSP00000227266.4:p.Cys331Arg
ENST00000533897.1:n.3725T>C
NM_001814.4:c.991T>C , LRG_50t1:c.991T>C	NP_001805.3:p.Cys331Arg
NM_001814.5:c.991T>C	NP_001805.3:p.Cys331Arg
NM_001814.6:c.991T>C MANE Select	NP_001805.4:p.Cys331Arg