Canonical Allele Identifier: CA476145378
Gene: CTSC HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.88027489C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294321C>T , CM000673.2:g.88294321C>T GRCh38
NC_000011.9:g.88027489C>T , CM000673.1:g.88027489C>T GRCh37
NC_000011.8:g.87667137C>T NCBI36
NG_007952.1:g.48453G>A , LRG_50:g.48453G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000227266.10:c.1077G>A MANE Select ENSP00000227266.4:p.Leu359=
ENST00000533897.2:n.5390G>A
ENST00000676612.1:c.*884G>A ENSP00000504440.1:n.*884G>A
ENST00000677208.1:c.*583G>A ENSP00000504347.1:n.*583G>A
ENST00000677661.1:c.*754G>A ENSP00000503323.1:n.*754G>A
ENST00000677802.1:c.*754G>A ENSP00000504115.1:n.*754G>A
ENST00000678395.1:c.*583G>A ENSP00000503123.1:n.*583G>A
ENST00000678464.1:c.1044G>A ENSP00000503046.1:p.Leu348=
ENST00000678506.1:c.1038G>A ENSP00000503580.1:p.Leu346=
ENST00000678520.1:c.*728G>A ENSP00000503361.1:n.*728G>A
ENST00000678554.1:c.889+1812G>A ENSP00000504541.1:n.889+1812G>A
ENST00000678915.1:c.945G>A ENSP00000504805.1:p.Leu315=
ENST00000679224.1:c.714G>A ENSP00000504475.1:p.Leu238=
ENST00000227266.9:c.1077G>A ENSP00000227266.4:p.Leu359=
ENST00000533897.1:n.3811G>A
NM_001814.4:c.1077G>A , LRG_50t1:c.1077G>A NP_001805.3:p.Leu359=
NM_001814.5:c.1077G>A NP_001805.3:p.Leu359=
NM_001814.6:c.1077G>A MANE Select NP_001805.4:p.Leu359=