Canonical Allele Identifier: CA382022196

Gene: CTSC

Linked Data

• gnomAD v4: 11-88294441-T-G
• MyVariant Identifiers: chr11:g.88027609T>G (hg19) ; chr11:g.88294441T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294441T>G , CM000673.2:g.88294441T>G	GRCh38
NC_000011.9:g.88027609T>G , CM000673.1:g.88027609T>G	GRCh37
NC_000011.8:g.87667257T>G	NCBI36
NG_007952.1:g.48333A>C , LRG_50:g.48333A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.957A>C MANE Select	ENSP00000227266.4:p.Glu319Asp
ENST00000533897.2:n.5270A>C
ENST00000676612.1:c.*764A>C	ENSP00000504440.1:n.*764A>C
ENST00000677208.1:c.*463A>C	ENSP00000504347.1:n.*463A>C
ENST00000677661.1:c.*634A>C	ENSP00000503323.1:n.*634A>C
ENST00000677802.1:c.*634A>C	ENSP00000504115.1:n.*634A>C
ENST00000678395.1:c.*463A>C	ENSP00000503123.1:n.*463A>C
ENST00000678464.1:c.924A>C	ENSP00000503046.1:p.Glu308Asp
ENST00000678506.1:c.918A>C	ENSP00000503580.1:p.Glu306Asp
ENST00000678520.1:c.*608A>C	ENSP00000503361.1:n.*608A>C
ENST00000678554.1:c.889+1692A>C	ENSP00000504541.1:n.889+1692A>C
ENST00000678915.1:c.825A>C	ENSP00000504805.1:p.Glu275Asp
ENST00000679224.1:c.594A>C	ENSP00000504475.1:p.Glu198Asp
ENST00000227266.9:c.957A>C	ENSP00000227266.4:p.Glu319Asp
ENST00000533897.1:n.3691A>C
NM_001814.4:c.957A>C , LRG_50t1:c.957A>C	NP_001805.3:p.Glu319Asp
NM_001814.5:c.957A>C	NP_001805.3:p.Glu319Asp
NM_001814.6:c.957A>C MANE Select	NP_001805.4:p.Glu319Asp