Canonical Allele Identifier: CA6219731

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294081G>C , CM000673.2:g.88294081G>C	GRCh38
NC_000011.9:g.88027249G>C , CM000673.1:g.88027249G>C	GRCh37
NC_000011.8:g.87666897G>C	NCBI36
NG_007952.1:g.48693C>G , LRG_50:g.48693C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001814.6:c.1317C>G MANE Select	NP_001805.4:p.Phe439Leu
ENST00000227266.10:c.1317C>G MANE Select	ENSP00000227266.4:p.Phe439Leu
NM_001814.4:c.1317C>G , LRG_50t1:c.1317C>G	NP_001805.3:p.Phe439Leu
NM_001814.5:c.1317C>G	NP_001805.3:p.Phe439Leu
ENST00000227266.9:c.1317C>G	ENSP00000227266.4:p.Phe439Leu
ENST00000533897.1:n.4051C>G
ENST00000533897.2:n.5630C>G
ENST00000676612.1:c.*1124C>G	ENSP00000504440.1:n.*1124C>G
ENST00000677208.1:c.*823C>G	ENSP00000504347.1:n.*823C>G
ENST00000677661.1:c.*994C>G	ENSP00000503323.1:n.*994C>G
ENST00000677802.1:c.*994C>G	ENSP00000504115.1:n.*994C>G
ENST00000678395.1:c.*823C>G	ENSP00000503123.1:n.*823C>G
ENST00000678464.1:c.1284C>G	ENSP00000503046.1:p.Phe428Leu
ENST00000678506.1:c.1278C>G	ENSP00000503580.1:p.Phe426Leu
ENST00000678520.1:c.*968C>G	ENSP00000503361.1:n.*968C>G
ENST00000678554.1:c.889+2052C>G	ENSP00000504541.1:n.889+2052C>G
ENST00000678915.1:c.1185C>G	ENSP00000504805.1:p.Phe395Leu
ENST00000679224.1:c.954C>G	ENSP00000504475.1:p.Phe318Leu