Canonical Allele Identifier: CA382026255
Community Standard Title: NM_001814.6(CTSC):c.485+1G>A
Gene: CTSC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88312387C>T , CM000673.2:g.88312387C>T GRCh38
NC_000011.9:g.88045555C>T , CM000673.1:g.88045555C>T GRCh37
NC_000011.8:g.87685203C>T NCBI36
NG_007952.1:g.30387G>A , LRG_50:g.30387G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001814.6:c.485+1G>A MANE Select NP_001805.4:n.485+1G>A
ENST00000227266.10:c.485+1G>A MANE Select ENSP00000227266.4:n.485+1G>A
NM_001814.4:c.485+1G>A , LRG_50t1:c.485+1G>A NP_001805.3:n.485+1G>A
NM_001814.5:c.485+1G>A NP_001805.3:n.485+1G>A
ENST00000227266.9:c.485+1G>A ENSP00000227266.4:n.485+1G>A
ENST00000527018.5:c.355+1G>A
ENST00000527018.6:c.485+1G>A ENSP00000432556.2:n.485+1G>A
ENST00000533865.5:n.507+1G>A
ENST00000533897.2:n.533+1G>A
ENST00000676612.1:c.*292+1G>A ENSP00000504440.1:n.*292+1G>A
ENST00000677208.1:c.319-3069G>A ENSP00000504347.1:n.319-3069G>A
ENST00000677661.1:c.*162+1G>A ENSP00000503323.1:n.*162+1G>A
ENST00000677802.1:c.*162+1G>A ENSP00000504115.1:n.*162+1G>A
ENST00000678395.1:c.423+63G>A ENSP00000503123.1:n.423+63G>A
ENST00000678464.1:c.485+1G>A ENSP00000503046.1:n.485+1G>A
ENST00000678506.1:c.446+40G>A ENSP00000503580.1:n.446+40G>A
ENST00000678520.1:c.*292+1G>A ENSP00000503361.1:n.*292+1G>A
ENST00000678554.1:c.485+1G>A ENSP00000504541.1:n.485+1G>A
ENST00000678915.1:c.485+1G>A ENSP00000504805.1:n.485+1G>A
ENST00000679224.1:c.122+1G>A ENSP00000504475.1:n.122+1G>A