Canonical Allele Identifier: CA382021994

Gene: CTSC

Linked Data

• dbSNP Id: rs1164228158
• gnomAD v3: 11-88294352-C-G
• gnomAD v4: 11-88294352-C-G
• MyVariant Identifiers: chr11:g.88027520C>G (hg19) ; chr11:g.88294352C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294352C>G , CM000673.2:g.88294352C>G	GRCh38
NC_000011.9:g.88027520C>G , CM000673.1:g.88027520C>G	GRCh37
NC_000011.8:g.87667168C>G	NCBI36
NG_007952.1:g.48422G>C , LRG_50:g.48422G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.1046G>C MANE Select	ENSP00000227266.4:p.Gly349Ala
ENST00000533897.2:n.5359G>C
ENST00000676612.1:c.*853G>C	ENSP00000504440.1:n.*853G>C
ENST00000677208.1:c.*552G>C	ENSP00000504347.1:n.*552G>C
ENST00000677661.1:c.*723G>C	ENSP00000503323.1:n.*723G>C
ENST00000677802.1:c.*723G>C	ENSP00000504115.1:n.*723G>C
ENST00000678395.1:c.*552G>C	ENSP00000503123.1:n.*552G>C
ENST00000678464.1:c.1013G>C	ENSP00000503046.1:p.Gly338Ala
ENST00000678506.1:c.1007G>C	ENSP00000503580.1:p.Gly336Ala
ENST00000678520.1:c.*697G>C	ENSP00000503361.1:n.*697G>C
ENST00000678554.1:c.889+1781G>C	ENSP00000504541.1:n.889+1781G>C
ENST00000678915.1:c.914G>C	ENSP00000504805.1:p.Gly305Ala
ENST00000679224.1:c.683G>C	ENSP00000504475.1:p.Gly228Ala
ENST00000227266.9:c.1046G>C	ENSP00000227266.4:p.Gly349Ala
ENST00000533897.1:n.3780G>C
NM_001814.4:c.1046G>C , LRG_50t1:c.1046G>C	NP_001805.3:p.Gly349Ala
NM_001814.5:c.1046G>C	NP_001805.3:p.Gly349Ala
NM_001814.6:c.1046G>C MANE Select	NP_001805.4:p.Gly349Ala