Canonical Allele Identifier: CA382022119

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027574C>A (hg19) ; chr11:g.88294406C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294406C>A , CM000673.2:g.88294406C>A	GRCh38
NC_000011.9:g.88027574C>A , CM000673.1:g.88027574C>A	GRCh37
NC_000011.8:g.87667222C>A	NCBI36
NG_007952.1:g.48368G>T , LRG_50:g.48368G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.992G>T MANE Select	ENSP00000227266.4:p.Cys331Phe
ENST00000533897.2:n.5305G>T
ENST00000676612.1:c.*799G>T	ENSP00000504440.1:n.*799G>T
ENST00000677208.1:c.*498G>T	ENSP00000504347.1:n.*498G>T
ENST00000677661.1:c.*669G>T	ENSP00000503323.1:n.*669G>T
ENST00000677802.1:c.*669G>T	ENSP00000504115.1:n.*669G>T
ENST00000678395.1:c.*498G>T	ENSP00000503123.1:n.*498G>T
ENST00000678464.1:c.959G>T	ENSP00000503046.1:p.Cys320Phe
ENST00000678506.1:c.953G>T	ENSP00000503580.1:p.Cys318Phe
ENST00000678520.1:c.*643G>T	ENSP00000503361.1:n.*643G>T
ENST00000678554.1:c.889+1727G>T	ENSP00000504541.1:n.889+1727G>T
ENST00000678915.1:c.860G>T	ENSP00000504805.1:p.Cys287Phe
ENST00000679224.1:c.629G>T	ENSP00000504475.1:p.Cys210Phe
ENST00000227266.9:c.992G>T	ENSP00000227266.4:p.Cys331Phe
ENST00000533897.1:n.3726G>T
NM_001814.4:c.992G>T , LRG_50t1:c.992G>T	NP_001805.3:p.Cys331Phe
NM_001814.5:c.992G>T	NP_001805.3:p.Cys331Phe
NM_001814.6:c.992G>T MANE Select	NP_001805.4:p.Cys331Phe