Canonical Allele Identifier: CA382026659

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88045652A>C (hg19) ; chr11:g.88312484A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88312484A>C , CM000673.2:g.88312484A>C	GRCh38
NC_000011.9:g.88045652A>C , CM000673.1:g.88045652A>C	GRCh37
NC_000011.8:g.87685300A>C	NCBI36
NG_007952.1:g.30290T>G , LRG_50:g.30290T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.389T>G MANE Select	ENSP00000227266.4:p.Leu130Trp
ENST00000527018.6:c.389T>G	ENSP00000432556.2:p.Leu130Trp
ENST00000533897.2:n.437T>G
ENST00000676612.1:c.*196T>G	ENSP00000504440.1:n.*196T>G
ENST00000677208.1:c.319-3166T>G	ENSP00000504347.1:n.319-3166T>G
ENST00000677661.1:c.*66T>G	ENSP00000503323.1:n.*66T>G
ENST00000677802.1:c.*66T>G	ENSP00000504115.1:n.*66T>G
ENST00000678395.1:c.389T>G	ENSP00000503123.1:p.Leu130Trp
ENST00000678464.1:c.389T>G	ENSP00000503046.1:p.Leu130Trp
ENST00000678506.1:c.389T>G	ENSP00000503580.1:p.Leu130Trp
ENST00000678520.1:c.*196T>G	ENSP00000503361.1:n.*196T>G
ENST00000678554.1:c.389T>G	ENSP00000504541.1:p.Leu130Trp
ENST00000678915.1:c.389T>G	ENSP00000504805.1:p.Leu130Trp
ENST00000679224.1:c.26T>G	ENSP00000504475.1:p.Leu9Trp
ENST00000227266.9:c.389T>G	ENSP00000227266.4:p.Leu130Trp
ENST00000527018.5:c.259T>G
ENST00000533865.5:n.411T>G
NM_001814.4:c.389T>G , LRG_50t1:c.389T>G	NP_001805.3:p.Leu130Trp
NM_001814.5:c.389T>G	NP_001805.3:p.Leu130Trp
NM_001814.6:c.389T>G MANE Select	NP_001805.4:p.Leu130Trp