Canonical Allele Identifier: CA382021919

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027485T>G (hg19) ; chr11:g.88294317T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294317T>G , CM000673.2:g.88294317T>G	GRCh38
NC_000011.9:g.88027485T>G , CM000673.1:g.88027485T>G	GRCh37
NC_000011.8:g.87667133T>G	NCBI36
NG_007952.1:g.48457A>C , LRG_50:g.48457A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1081A>C MANE Select	ENSP00000227266.4:p.Lys361Gln
ENST00000533897.2:n.5394A>C
ENST00000676612.1:c.*888A>C	ENSP00000504440.1:n.*888A>C
ENST00000677208.1:c.*587A>C	ENSP00000504347.1:n.*587A>C
ENST00000677661.1:c.*758A>C	ENSP00000503323.1:n.*758A>C
ENST00000677802.1:c.*758A>C	ENSP00000504115.1:n.*758A>C
ENST00000678395.1:c.*587A>C	ENSP00000503123.1:n.*587A>C
ENST00000678464.1:c.1048A>C	ENSP00000503046.1:p.Lys350Gln
ENST00000678506.1:c.1042A>C	ENSP00000503580.1:p.Lys348Gln
ENST00000678520.1:c.*732A>C	ENSP00000503361.1:n.*732A>C
ENST00000678554.1:c.889+1816A>C	ENSP00000504541.1:n.889+1816A>C
ENST00000678915.1:c.949A>C	ENSP00000504805.1:p.Lys317Gln
ENST00000679224.1:c.718A>C	ENSP00000504475.1:p.Lys240Gln
ENST00000227266.9:c.1081A>C	ENSP00000227266.4:p.Lys361Gln
ENST00000533897.1:n.3815A>C
NM_001814.4:c.1081A>C , LRG_50t1:c.1081A>C	NP_001805.3:p.Lys361Gln
NM_001814.5:c.1081A>C	NP_001805.3:p.Lys361Gln
NM_001814.6:c.1081A>C MANE Select	NP_001805.4:p.Lys361Gln