Canonical Allele Identifier: CA6219972

Gene: CTSC

Linked Data

• dbSNP Id: rs751885736
• ExAC: 11:88045679 G / T
• gnomAD v2: 11-88045679-G-T
• gnomAD v4: 11-88312511-G-T
• MyVariant Identifiers: chr11:g.88045679G>T (hg19) ; chr11:g.88312511G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88312511G>T , CM000673.2:g.88312511G>T	GRCh38
NC_000011.9:g.88045679G>T , CM000673.1:g.88045679G>T	GRCh37
NC_000011.8:g.87685327G>T	NCBI36
NG_007952.1:g.30263C>A , LRG_50:g.30263C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.362C>A MANE Select	ENSP00000227266.4:p.Thr121Lys
ENST00000527018.6:c.362C>A	ENSP00000432556.2:p.Thr121Lys
ENST00000533897.2:n.410C>A
ENST00000676612.1:c.*169C>A	ENSP00000504440.1:n.*169C>A
ENST00000677208.1:c.319-3193C>A	ENSP00000504347.1:n.319-3193C>A
ENST00000677661.1:c.*39C>A	ENSP00000503323.1:n.*39C>A
ENST00000677802.1:c.*39C>A	ENSP00000504115.1:n.*39C>A
ENST00000678395.1:c.362C>A	ENSP00000503123.1:p.Thr121Lys
ENST00000678464.1:c.362C>A	ENSP00000503046.1:p.Thr121Lys
ENST00000678506.1:c.362C>A	ENSP00000503580.1:p.Thr121Lys
ENST00000678520.1:c.*169C>A	ENSP00000503361.1:n.*169C>A
ENST00000678554.1:c.362C>A	ENSP00000504541.1:p.Thr121Lys
ENST00000678915.1:c.362C>A	ENSP00000504805.1:p.Thr121Lys
ENST00000679224.1:c.-2C>A	ENSP00000504475.1:n.-2C>A
ENST00000227266.9:c.362C>A	ENSP00000227266.4:p.Thr121Lys
ENST00000527018.5:c.232C>A
ENST00000533865.5:n.384C>A
NM_001814.4:c.362C>A , LRG_50t1:c.362C>A	NP_001805.3:p.Thr121Lys
NM_001814.5:c.362C>A	NP_001805.3:p.Thr121Lys
NM_001814.6:c.362C>A MANE Select	NP_001805.4:p.Thr121Lys