Canonical Allele Identifier: CA382022210

Gene: CTSC

Linked Data

• ClinVar Variation Id: 1494465
• ClinVar RCV Id: RCV001989362
• MyVariant Identifiers: chr11:g.88027616A>C (hg19) ; chr11:g.88294448A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294448A>C , CM000673.2:g.88294448A>C	GRCh38
NC_000011.9:g.88027616A>C , CM000673.1:g.88027616A>C	GRCh37
NC_000011.8:g.87667264A>C	NCBI36
NG_007952.1:g.48326T>G , LRG_50:g.48326T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.950T>G MANE Select	ENSP00000227266.4:p.Val317Gly
ENST00000533897.2:n.5263T>G
ENST00000676612.1:c.*757T>G	ENSP00000504440.1:n.*757T>G
ENST00000677208.1:c.*456T>G	ENSP00000504347.1:n.*456T>G
ENST00000677661.1:c.*627T>G	ENSP00000503323.1:n.*627T>G
ENST00000677802.1:c.*627T>G	ENSP00000504115.1:n.*627T>G
ENST00000678395.1:c.*456T>G	ENSP00000503123.1:n.*456T>G
ENST00000678464.1:c.917T>G	ENSP00000503046.1:p.Val306Gly
ENST00000678506.1:c.911T>G	ENSP00000503580.1:p.Val304Gly
ENST00000678520.1:c.*601T>G	ENSP00000503361.1:n.*601T>G
ENST00000678554.1:c.889+1685T>G	ENSP00000504541.1:n.889+1685T>G
ENST00000678915.1:c.818T>G	ENSP00000504805.1:p.Val273Gly
ENST00000679224.1:c.587T>G	ENSP00000504475.1:p.Val196Gly
ENST00000227266.9:c.950T>G	ENSP00000227266.4:p.Val317Gly
ENST00000533897.1:n.3684T>G
NM_001814.4:c.950T>G , LRG_50t1:c.950T>G	NP_001805.3:p.Val317Gly
NM_001814.5:c.950T>G	NP_001805.3:p.Val317Gly
NM_001814.6:c.950T>G MANE Select	NP_001805.4:p.Val317Gly