Canonical Allele Identifier: CA382021481

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294118T>G , CM000673.2:g.88294118T>G	GRCh38
NC_000011.9:g.88027286T>G , CM000673.1:g.88027286T>G	GRCh37
NC_000011.8:g.87666934T>G	NCBI36
NG_007952.1:g.48656A>C , LRG_50:g.48656A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001814.6:c.1280A>C MANE Select	NP_001805.4:p.Asn427Thr
ENST00000227266.10:c.1280A>C MANE Select	ENSP00000227266.4:p.Asn427Thr
NM_001814.4:c.1280A>C , LRG_50t1:c.1280A>C	NP_001805.3:p.Asn427Thr
NM_001814.5:c.1280A>C	NP_001805.3:p.Asn427Thr
ENST00000227266.9:c.1280A>C	ENSP00000227266.4:p.Asn427Thr
ENST00000533897.1:n.4014A>C
ENST00000533897.2:n.5593A>C
ENST00000676612.1:c.*1087A>C	ENSP00000504440.1:n.*1087A>C
ENST00000677208.1:c.*786A>C	ENSP00000504347.1:n.*786A>C
ENST00000677661.1:c.*957A>C	ENSP00000503323.1:n.*957A>C
ENST00000677802.1:c.*957A>C	ENSP00000504115.1:n.*957A>C
ENST00000678395.1:c.*786A>C	ENSP00000503123.1:n.*786A>C
ENST00000678464.1:c.1247A>C	ENSP00000503046.1:p.Asn416Thr
ENST00000678506.1:c.1241A>C	ENSP00000503580.1:p.Asn414Thr
ENST00000678520.1:c.*931A>C	ENSP00000503361.1:n.*931A>C
ENST00000678554.1:c.889+2015A>C	ENSP00000504541.1:n.889+2015A>C
ENST00000678915.1:c.1148A>C	ENSP00000504805.1:p.Asn383Thr
ENST00000679224.1:c.917A>C	ENSP00000504475.1:p.Asn306Thr