Canonical Allele Identifier: CA225417387

Gene: CTSC

Linked Data

• ClinVar Variation Id: 652504
• ClinVar RCV Id: RCV000808065
• dbSNP Id: rs1057001996
• gnomAD v2: 11-88027613-T-C
• gnomAD v3: 11-88294445-T-C
• gnomAD v4: 11-88294445-T-C
• MyVariant Identifiers: chr11:g.88027613T>C (hg19) ; chr11:g.88294445T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294445T>C , CM000673.2:g.88294445T>C	GRCh38
NC_000011.9:g.88027613T>C , CM000673.1:g.88027613T>C	GRCh37
NC_000011.8:g.87667261T>C	NCBI36
NG_007952.1:g.48329A>G , LRG_50:g.48329A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.953A>G MANE Select	ENSP00000227266.4:p.Glu318Gly
ENST00000533897.2:n.5266A>G
ENST00000676612.1:c.*760A>G	ENSP00000504440.1:n.*760A>G
ENST00000677208.1:c.*459A>G	ENSP00000504347.1:n.*459A>G
ENST00000677661.1:c.*630A>G	ENSP00000503323.1:n.*630A>G
ENST00000677802.1:c.*630A>G	ENSP00000504115.1:n.*630A>G
ENST00000678395.1:c.*459A>G	ENSP00000503123.1:n.*459A>G
ENST00000678464.1:c.920A>G	ENSP00000503046.1:p.Glu307Gly
ENST00000678506.1:c.914A>G	ENSP00000503580.1:p.Glu305Gly
ENST00000678520.1:c.*604A>G	ENSP00000503361.1:n.*604A>G
ENST00000678554.1:c.889+1688A>G	ENSP00000504541.1:n.889+1688A>G
ENST00000678915.1:c.821A>G	ENSP00000504805.1:p.Glu274Gly
ENST00000679224.1:c.590A>G	ENSP00000504475.1:p.Glu197Gly
ENST00000227266.9:c.953A>G	ENSP00000227266.4:p.Glu318Gly
ENST00000533897.1:n.3687A>G
NM_001814.4:c.953A>G , LRG_50t1:c.953A>G	NP_001805.3:p.Glu318Gly
NM_001814.5:c.953A>G	NP_001805.3:p.Glu318Gly
NM_001814.6:c.953A>G MANE Select	NP_001805.4:p.Glu318Gly