Canonical Allele Identifier: CA1989485470
Community Standard Title: NM_001814.6(CTSC):c.755A= (p.Gln252=)
Gene: CTSC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88300532T= , CM000673.2:g.88300532T= GRCh38
NC_000011.9:g.88033700T= , CM000673.1:g.88033700T= GRCh37
NC_000011.8:g.87673348T= NCBI36
NG_007952.1:g.42242A= , LRG_50:g.42242A=

Transcript Alleles

HGVS Amino-acid Change
NM_001814.6:c.755A= MANE Select NP_001805.4:p.Gln252=
ENST00000227266.10:c.755A= MANE Select ENSP00000227266.4:p.Gln252=
NM_001814.4:c.755A= , LRG_50t1:c.755A= NP_001805.3:p.Gln252=
NM_001814.5:c.755A= NP_001805.3:p.Gln252=
ENST00000227266.9:c.755A= ENSP00000227266.4:p.Gln252=
ENST00000527018.5:c.625A=
ENST00000527018.6:c.755A= ENSP00000432556.2:p.Gln252=
ENST00000533897.2:n.803A=
ENST00000676612.1:c.*562A= ENSP00000504440.1:n.*562A=
ENST00000677208.1:c.*261A= ENSP00000504347.1:n.*261A=
ENST00000677661.1:c.*432A= ENSP00000503323.1:n.*432A=
ENST00000677802.1:c.*432A= ENSP00000504115.1:n.*432A=
ENST00000678065.1:n.315A=
ENST00000678395.1:c.*261A= ENSP00000503123.1:n.*261A=
ENST00000678464.1:c.755A= ENSP00000503046.1:p.Gln252=
ENST00000678506.1:c.716A= ENSP00000503580.1:p.Gln239=
ENST00000678520.1:c.*406A= ENSP00000503361.1:n.*406A=
ENST00000678554.1:c.755A= ENSP00000504541.1:p.Gln252=
ENST00000678915.1:c.755A= ENSP00000504805.1:p.Gln252=
ENST00000679224.1:c.392A= ENSP00000504475.1:p.Gln131=