Canonical Allele Identifier: CA382024933

Gene: CTSC

Linked Data

• ClinVar Variation Id: 2076974
• ClinVar RCV Id: RCV002972593 ; RCV002985290
• dbSNP Id: rs1216773092
• gnomAD v4: 11-88309179-T-G
• MyVariant Identifiers: chr11:g.88042347T>G (hg19) ; chr11:g.88309179T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88309179T>G , CM000673.2:g.88309179T>G	GRCh38
NC_000011.9:g.88042347T>G , CM000673.1:g.88042347T>G	GRCh37
NC_000011.8:g.87681995T>G	NCBI36
NG_007952.1:g.33595A>C , LRG_50:g.33595A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.625A>C MANE Select	ENSP00000227266.4:p.Ser209Arg
ENST00000527018.6:c.625A>C	ENSP00000432556.2:p.Ser209Arg
ENST00000533897.2:n.673A>C
ENST00000676612.1:c.*432A>C	ENSP00000504440.1:n.*432A>C
ENST00000677208.1:c.*131A>C	ENSP00000504347.1:n.*131A>C
ENST00000677661.1:c.*302A>C	ENSP00000503323.1:n.*302A>C
ENST00000677802.1:c.*302A>C	ENSP00000504115.1:n.*302A>C
ENST00000678065.1:n.185A>C
ENST00000678395.1:c.*131A>C	ENSP00000503123.1:n.*131A>C
ENST00000678464.1:c.625A>C	ENSP00000503046.1:p.Ser209Arg
ENST00000678506.1:c.586A>C	ENSP00000503580.1:p.Ser196Arg
ENST00000678520.1:c.*292+3209A>C	ENSP00000503361.1:n.*292+3209A>C
ENST00000678554.1:c.625A>C	ENSP00000504541.1:p.Ser209Arg
ENST00000678915.1:c.625A>C	ENSP00000504805.1:p.Ser209Arg
ENST00000679224.1:c.262A>C	ENSP00000504475.1:p.Ser88Arg
ENST00000227266.9:c.625A>C	ENSP00000227266.4:p.Ser209Arg
ENST00000527018.5:c.495A>C
NM_001814.4:c.625A>C , LRG_50t1:c.625A>C	NP_001805.3:p.Ser209Arg
NM_001814.5:c.625A>C	NP_001805.3:p.Ser209Arg
NM_001814.6:c.625A>C MANE Select	NP_001805.4:p.Ser209Arg