Canonical Allele Identifier: CA1989482634
Community Standard Title: NM_001814.6(CTSC):c.1287G= (p.Trp429=)
Gene: CTSC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294111C= , CM000673.2:g.88294111C= GRCh38
NC_000011.9:g.88027279C= , CM000673.1:g.88027279C= GRCh37
NC_000011.8:g.87666927C= NCBI36
NG_007952.1:g.48663G= , LRG_50:g.48663G=

Transcript Alleles

HGVS Amino-acid Change
NM_001814.6:c.1287G= MANE Select NP_001805.4:p.Trp429=
ENST00000227266.10:c.1287G= MANE Select ENSP00000227266.4:p.Trp429=
NM_001814.4:c.1287G= , LRG_50t1:c.1287G= NP_001805.3:p.Trp429=
NM_001814.5:c.1287G= NP_001805.3:p.Trp429=
ENST00000227266.9:c.1287G= ENSP00000227266.4:p.Trp429=
ENST00000533897.1:n.4021G=
ENST00000533897.2:n.5600G=
ENST00000676612.1:c.*1094G= ENSP00000504440.1:n.*1094G=
ENST00000677208.1:c.*793G= ENSP00000504347.1:n.*793G=
ENST00000677661.1:c.*964G= ENSP00000503323.1:n.*964G=
ENST00000677802.1:c.*964G= ENSP00000504115.1:n.*964G=
ENST00000678395.1:c.*793G= ENSP00000503123.1:n.*793G=
ENST00000678464.1:c.1254G= ENSP00000503046.1:p.Trp418=
ENST00000678506.1:c.1248G= ENSP00000503580.1:p.Trp416=
ENST00000678520.1:c.*938G= ENSP00000503361.1:n.*938G=
ENST00000678554.1:c.889+2022G= ENSP00000504541.1:n.889+2022G=
ENST00000678915.1:c.1155G= ENSP00000504805.1:p.Trp385=
ENST00000679224.1:c.924G= ENSP00000504475.1:p.Trp308=