Canonical Allele Identifier: CA382021600

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294173G>C , CM000673.2:g.88294173G>C	GRCh38
NC_000011.9:g.88027341G>C , CM000673.1:g.88027341G>C	GRCh37
NC_000011.8:g.87666989G>C	NCBI36
NG_007952.1:g.48601C>G , LRG_50:g.48601C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001814.6:c.1225C>G MANE Select	NP_001805.4:p.Leu409Val
ENST00000227266.10:c.1225C>G MANE Select	ENSP00000227266.4:p.Leu409Val
NM_001814.4:c.1225C>G , LRG_50t1:c.1225C>G	NP_001805.3:p.Leu409Val
NM_001814.5:c.1225C>G	NP_001805.3:p.Leu409Val
ENST00000227266.9:c.1225C>G	ENSP00000227266.4:p.Leu409Val
ENST00000533897.1:n.3959C>G
ENST00000533897.2:n.5538C>G
ENST00000676612.1:c.*1032C>G	ENSP00000504440.1:n.*1032C>G
ENST00000677208.1:c.*731C>G	ENSP00000504347.1:n.*731C>G
ENST00000677661.1:c.*902C>G	ENSP00000503323.1:n.*902C>G
ENST00000677802.1:c.*902C>G	ENSP00000504115.1:n.*902C>G
ENST00000678395.1:c.*731C>G	ENSP00000503123.1:n.*731C>G
ENST00000678464.1:c.1192C>G	ENSP00000503046.1:p.Leu398Val
ENST00000678506.1:c.1186C>G	ENSP00000503580.1:p.Leu396Val
ENST00000678520.1:c.*876C>G	ENSP00000503361.1:n.*876C>G
ENST00000678554.1:c.889+1960C>G	ENSP00000504541.1:n.889+1960C>G
ENST00000678915.1:c.1093C>G	ENSP00000504805.1:p.Leu365Val
ENST00000679224.1:c.862C>G	ENSP00000504475.1:p.Leu288Val