Canonical Allele Identifier: CA6219916

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88309217A>G , CM000673.2:g.88309217A>G	GRCh38
NC_000011.9:g.88042385A>G , CM000673.1:g.88042385A>G	GRCh37
NC_000011.8:g.87682033A>G	NCBI36
NG_007952.1:g.33557T>C , LRG_50:g.33557T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001814.6:c.587T>C MANE Select	NP_001805.4:p.Leu196Pro
ENST00000227266.10:c.587T>C MANE Select	ENSP00000227266.4:p.Leu196Pro
NM_001814.4:c.587T>C , LRG_50t1:c.587T>C	NP_001805.3:p.Leu196Pro
NM_001814.5:c.587T>C	NP_001805.3:p.Leu196Pro
ENST00000227266.9:c.587T>C	ENSP00000227266.4:p.Leu196Pro
ENST00000527018.5:c.457T>C
ENST00000527018.6:c.587T>C	ENSP00000432556.2:p.Leu196Pro
ENST00000533897.2:n.635T>C
ENST00000676612.1:c.*394T>C	ENSP00000504440.1:n.*394T>C
ENST00000677208.1:c.*93T>C	ENSP00000504347.1:n.*93T>C
ENST00000677661.1:c.*264T>C	ENSP00000503323.1:n.*264T>C
ENST00000677802.1:c.*264T>C	ENSP00000504115.1:n.*264T>C
ENST00000678065.1:n.147T>C
ENST00000678395.1:c.*93T>C	ENSP00000503123.1:n.*93T>C
ENST00000678464.1:c.587T>C	ENSP00000503046.1:p.Leu196Pro
ENST00000678506.1:c.548T>C	ENSP00000503580.1:p.Leu183Pro
ENST00000678520.1:c.*292+3171T>C	ENSP00000503361.1:n.*292+3171T>C
ENST00000678554.1:c.587T>C	ENSP00000504541.1:p.Leu196Pro
ENST00000678915.1:c.587T>C	ENSP00000504805.1:p.Leu196Pro
ENST00000679224.1:c.224T>C	ENSP00000504475.1:p.Leu75Pro