Canonical Allele Identifier: CA382021967

Gene: CTSC

Linked Data

• dbSNP Id: rs1323212572
• gnomAD v2: 11-88027508-C-G
• MyVariant Identifiers: chr11:g.88027508C>G (hg19) ; chr11:g.88294340C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294340C>G , CM000673.2:g.88294340C>G	GRCh38
NC_000011.9:g.88027508C>G , CM000673.1:g.88027508C>G	GRCh37
NC_000011.8:g.87667156C>G	NCBI36
NG_007952.1:g.48434G>C , LRG_50:g.48434G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1058G>C MANE Select	ENSP00000227266.4:p.Gly353Ala
ENST00000533897.2:n.5371G>C
ENST00000676612.1:c.*865G>C	ENSP00000504440.1:n.*865G>C
ENST00000677208.1:c.*564G>C	ENSP00000504347.1:n.*564G>C
ENST00000677661.1:c.*735G>C	ENSP00000503323.1:n.*735G>C
ENST00000677802.1:c.*735G>C	ENSP00000504115.1:n.*735G>C
ENST00000678395.1:c.*564G>C	ENSP00000503123.1:n.*564G>C
ENST00000678464.1:c.1025G>C	ENSP00000503046.1:p.Gly342Ala
ENST00000678506.1:c.1019G>C	ENSP00000503580.1:p.Gly340Ala
ENST00000678520.1:c.*709G>C	ENSP00000503361.1:n.*709G>C
ENST00000678554.1:c.889+1793G>C	ENSP00000504541.1:n.889+1793G>C
ENST00000678915.1:c.926G>C	ENSP00000504805.1:p.Gly309Ala
ENST00000679224.1:c.695G>C	ENSP00000504475.1:p.Gly232Ala
ENST00000227266.9:c.1058G>C	ENSP00000227266.4:p.Gly353Ala
ENST00000533897.1:n.3792G>C
NM_001814.4:c.1058G>C , LRG_50t1:c.1058G>C	NP_001805.3:p.Gly353Ala
NM_001814.5:c.1058G>C	NP_001805.3:p.Gly353Ala
NM_001814.6:c.1058G>C MANE Select	NP_001805.4:p.Gly353Ala