Canonical Allele Identifier: CA382022081

Gene: CTSC

Linked Data

• dbSNP Id: rs1944276209
• gnomAD v4: 11-88294390-G-C
• MyVariant Identifiers: chr11:g.88027558G>C (hg19) ; chr11:g.88294390G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294390G>C , CM000673.2:g.88294390G>C	GRCh38
NC_000011.9:g.88027558G>C , CM000673.1:g.88027558G>C	GRCh37
NC_000011.8:g.87667206G>C	NCBI36
NG_007952.1:g.48384C>G , LRG_50:g.48384C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1008C>G MANE Select	ENSP00000227266.4:p.Asp336Glu
ENST00000533897.2:n.5321C>G
ENST00000676612.1:c.*815C>G	ENSP00000504440.1:n.*815C>G
ENST00000677208.1:c.*514C>G	ENSP00000504347.1:n.*514C>G
ENST00000677661.1:c.*685C>G	ENSP00000503323.1:n.*685C>G
ENST00000677802.1:c.*685C>G	ENSP00000504115.1:n.*685C>G
ENST00000678395.1:c.*514C>G	ENSP00000503123.1:n.*514C>G
ENST00000678464.1:c.975C>G	ENSP00000503046.1:p.Asp325Glu
ENST00000678506.1:c.969C>G	ENSP00000503580.1:p.Asp323Glu
ENST00000678520.1:c.*659C>G	ENSP00000503361.1:n.*659C>G
ENST00000678554.1:c.889+1743C>G	ENSP00000504541.1:n.889+1743C>G
ENST00000678915.1:c.876C>G	ENSP00000504805.1:p.Asp292Glu
ENST00000679224.1:c.645C>G	ENSP00000504475.1:p.Asp215Glu
ENST00000227266.9:c.1008C>G	ENSP00000227266.4:p.Asp336Glu
ENST00000533897.1:n.3742C>G
NM_001814.4:c.1008C>G , LRG_50t1:c.1008C>G	NP_001805.3:p.Asp336Glu
NM_001814.5:c.1008C>G	NP_001805.3:p.Asp336Glu
NM_001814.6:c.1008C>G MANE Select	NP_001805.4:p.Asp336Glu