Canonical Allele Identifier: CA6219912

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88309175C>T , CM000673.2:g.88309175C>T	GRCh38
NC_000011.9:g.88042343C>T , CM000673.1:g.88042343C>T	GRCh37
NC_000011.8:g.87681991C>T	NCBI36
NG_007952.1:g.33599G>A , LRG_50:g.33599G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001814.6:c.629G>A MANE Select	NP_001805.4:p.Arg210Gln
ENST00000227266.10:c.629G>A MANE Select	ENSP00000227266.4:p.Arg210Gln
NM_001814.4:c.629G>A , LRG_50t1:c.629G>A	NP_001805.3:p.Arg210Gln
NM_001814.5:c.629G>A	NP_001805.3:p.Arg210Gln
ENST00000227266.9:c.629G>A	ENSP00000227266.4:p.Arg210Gln
ENST00000527018.5:c.499G>A
ENST00000527018.6:c.629G>A	ENSP00000432556.2:p.Arg210Gln
ENST00000533897.2:n.677G>A
ENST00000676612.1:c.*436G>A	ENSP00000504440.1:n.*436G>A
ENST00000677208.1:c.*135G>A	ENSP00000504347.1:n.*135G>A
ENST00000677661.1:c.*306G>A	ENSP00000503323.1:n.*306G>A
ENST00000677802.1:c.*306G>A	ENSP00000504115.1:n.*306G>A
ENST00000678065.1:n.189G>A
ENST00000678395.1:c.*135G>A	ENSP00000503123.1:n.*135G>A
ENST00000678464.1:c.629G>A	ENSP00000503046.1:p.Arg210Gln
ENST00000678506.1:c.590G>A	ENSP00000503580.1:p.Arg197Gln
ENST00000678520.1:c.*292+3213G>A	ENSP00000503361.1:n.*292+3213G>A
ENST00000678554.1:c.629G>A	ENSP00000504541.1:p.Arg210Gln
ENST00000678915.1:c.629G>A	ENSP00000504805.1:p.Arg210Gln
ENST00000679224.1:c.266G>A	ENSP00000504475.1:p.Arg89Gln