Canonical Allele Identifier: CA382022317
Community Standard Title: NM_001814.6(CTSC):c.901G>C (p.Gly301Arg)
Gene: CTSC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294497C>G , CM000673.2:g.88294497C>G GRCh38
NC_000011.9:g.88027665C>G , CM000673.1:g.88027665C>G GRCh37
NC_000011.8:g.87667313C>G NCBI36
NG_007952.1:g.48277G>C , LRG_50:g.48277G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001814.6:c.901G>C MANE Select NP_001805.4:p.Gly301Arg
ENST00000227266.10:c.901G>C MANE Select ENSP00000227266.4:p.Gly301Arg
NM_001814.4:c.901G>C , LRG_50t1:c.901G>C NP_001805.3:p.Gly301Arg
NM_001814.5:c.901G>C NP_001805.3:p.Gly301Arg
ENST00000227266.9:c.901G>C ENSP00000227266.4:p.Gly301Arg
ENST00000533897.1:n.3635G>C
ENST00000533897.2:n.5214G>C
ENST00000676612.1:c.*708G>C ENSP00000504440.1:n.*708G>C
ENST00000677208.1:c.*407G>C ENSP00000504347.1:n.*407G>C
ENST00000677661.1:c.*578G>C ENSP00000503323.1:n.*578G>C
ENST00000677802.1:c.*578G>C ENSP00000504115.1:n.*578G>C
ENST00000678395.1:c.*407G>C ENSP00000503123.1:n.*407G>C
ENST00000678464.1:c.890-22G>C ENSP00000503046.1:n.890-22G>C
ENST00000678506.1:c.862G>C ENSP00000503580.1:p.Gly288Arg
ENST00000678520.1:c.*552G>C ENSP00000503361.1:n.*552G>C
ENST00000678554.1:c.889+1636G>C ENSP00000504541.1:n.889+1636G>C
ENST00000678915.1:c.769G>C ENSP00000504805.1:p.Gly257Arg
ENST00000679224.1:c.538G>C ENSP00000504475.1:p.Gly180Arg