Canonical Allele Identifier: CA382022109
Gene: CTSC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294402T>A , CM000673.2:g.88294402T>A GRCh38
NC_000011.9:g.88027570T>A , CM000673.1:g.88027570T>A GRCh37
NC_000011.8:g.87667218T>A NCBI36
NG_007952.1:g.48372A>T , LRG_50:g.48372A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000227266.10:c.996A>T MANE Select ENSP00000227266.4:p.Lys332Asn
ENST00000533897.2:n.5309A>T
ENST00000676612.1:c.*803A>T ENSP00000504440.1:n.*803A>T
ENST00000677208.1:c.*502A>T ENSP00000504347.1:n.*502A>T
ENST00000677661.1:c.*673A>T ENSP00000503323.1:n.*673A>T
ENST00000677802.1:c.*673A>T ENSP00000504115.1:n.*673A>T
ENST00000678395.1:c.*502A>T ENSP00000503123.1:n.*502A>T
ENST00000678464.1:c.963A>T ENSP00000503046.1:p.Lys321Asn
ENST00000678506.1:c.957A>T ENSP00000503580.1:p.Lys319Asn
ENST00000678520.1:c.*647A>T ENSP00000503361.1:n.*647A>T
ENST00000678554.1:c.889+1731A>T ENSP00000504541.1:n.889+1731A>T
ENST00000678915.1:c.864A>T ENSP00000504805.1:p.Lys288Asn
ENST00000679224.1:c.633A>T ENSP00000504475.1:p.Lys211Asn
ENST00000227266.9:c.996A>T ENSP00000227266.4:p.Lys332Asn
ENST00000533897.1:n.3730A>T
NM_001814.4:c.996A>T , LRG_50t1:c.996A>T NP_001805.3:p.Lys332Asn
NM_001814.5:c.996A>T NP_001805.3:p.Lys332Asn
NM_001814.6:c.996A>T MANE Select NP_001805.4:p.Lys332Asn