Canonical Allele Identifier: CA382022229

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027625A>C (hg19) ; chr11:g.88294457A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294457A>C , CM000673.2:g.88294457A>C	GRCh38
NC_000011.9:g.88027625A>C , CM000673.1:g.88027625A>C	GRCh37
NC_000011.8:g.87667273A>C	NCBI36
NG_007952.1:g.48317T>G , LRG_50:g.48317T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.941T>G MANE Select	ENSP00000227266.4:p.Phe314Cys
ENST00000533897.2:n.5254T>G
ENST00000676612.1:c.*748T>G	ENSP00000504440.1:n.*748T>G
ENST00000677208.1:c.*447T>G	ENSP00000504347.1:n.*447T>G
ENST00000677661.1:c.*618T>G	ENSP00000503323.1:n.*618T>G
ENST00000677802.1:c.*618T>G	ENSP00000504115.1:n.*618T>G
ENST00000678395.1:c.*447T>G	ENSP00000503123.1:n.*447T>G
ENST00000678464.1:c.908T>G	ENSP00000503046.1:p.Phe303Cys
ENST00000678506.1:c.902T>G	ENSP00000503580.1:p.Phe301Cys
ENST00000678520.1:c.*592T>G	ENSP00000503361.1:n.*592T>G
ENST00000678554.1:c.889+1676T>G	ENSP00000504541.1:n.889+1676T>G
ENST00000678915.1:c.809T>G	ENSP00000504805.1:p.Phe270Cys
ENST00000679224.1:c.578T>G	ENSP00000504475.1:p.Phe193Cys
ENST00000227266.9:c.941T>G	ENSP00000227266.4:p.Phe314Cys
ENST00000533897.1:n.3675T>G
NM_001814.4:c.941T>G , LRG_50t1:c.941T>G	NP_001805.3:p.Phe314Cys
NM_001814.5:c.941T>G	NP_001805.3:p.Phe314Cys
NM_001814.6:c.941T>G MANE Select	NP_001805.4:p.Phe314Cys