Canonical Allele Identifier: CA382021543

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294143C>G , CM000673.2:g.88294143C>G	GRCh38
NC_000011.9:g.88027311C>G , CM000673.1:g.88027311C>G	GRCh37
NC_000011.8:g.87666959C>G	NCBI36
NG_007952.1:g.48631G>C , LRG_50:g.48631G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001814.6:c.1255G>C MANE Select	NP_001805.4:p.Gly419Arg
ENST00000227266.10:c.1255G>C MANE Select	ENSP00000227266.4:p.Gly419Arg
NM_001814.4:c.1255G>C , LRG_50t1:c.1255G>C	NP_001805.3:p.Gly419Arg
NM_001814.5:c.1255G>C	NP_001805.3:p.Gly419Arg
ENST00000227266.9:c.1255G>C	ENSP00000227266.4:p.Gly419Arg
ENST00000533897.1:n.3989G>C
ENST00000533897.2:n.5568G>C
ENST00000676612.1:c.*1062G>C	ENSP00000504440.1:n.*1062G>C
ENST00000677208.1:c.*761G>C	ENSP00000504347.1:n.*761G>C
ENST00000677661.1:c.*932G>C	ENSP00000503323.1:n.*932G>C
ENST00000677802.1:c.*932G>C	ENSP00000504115.1:n.*932G>C
ENST00000678395.1:c.*761G>C	ENSP00000503123.1:n.*761G>C
ENST00000678464.1:c.1222G>C	ENSP00000503046.1:p.Gly408Arg
ENST00000678506.1:c.1216G>C	ENSP00000503580.1:p.Gly406Arg
ENST00000678520.1:c.*906G>C	ENSP00000503361.1:n.*906G>C
ENST00000678554.1:c.889+1990G>C	ENSP00000504541.1:n.889+1990G>C
ENST00000678915.1:c.1123G>C	ENSP00000504805.1:p.Gly375Arg
ENST00000679224.1:c.892G>C	ENSP00000504475.1:p.Gly298Arg