Canonical Allele Identifier: CA225417348

Gene: CTSC

Linked Data

• dbSNP Id: rs1002695249
• gnomAD v3: 11-88294410-G-C
• gnomAD v4: 11-88294410-G-C
• MyVariant Identifiers: chr11:g.88027578G>C (hg19) ; chr11:g.88294410G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294410G>C , CM000673.2:g.88294410G>C	GRCh38
NC_000011.9:g.88027578G>C , CM000673.1:g.88027578G>C	GRCh37
NC_000011.8:g.87667226G>C	NCBI36
NG_007952.1:g.48364C>G , LRG_50:g.48364C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.988C>G MANE Select	ENSP00000227266.4:p.Pro330Ala
ENST00000533897.2:n.5301C>G
ENST00000676612.1:c.*795C>G	ENSP00000504440.1:n.*795C>G
ENST00000677208.1:c.*494C>G	ENSP00000504347.1:n.*494C>G
ENST00000677661.1:c.*665C>G	ENSP00000503323.1:n.*665C>G
ENST00000677802.1:c.*665C>G	ENSP00000504115.1:n.*665C>G
ENST00000678395.1:c.*494C>G	ENSP00000503123.1:n.*494C>G
ENST00000678464.1:c.955C>G	ENSP00000503046.1:p.Pro319Ala
ENST00000678506.1:c.949C>G	ENSP00000503580.1:p.Pro317Ala
ENST00000678520.1:c.*639C>G	ENSP00000503361.1:n.*639C>G
ENST00000678554.1:c.889+1723C>G	ENSP00000504541.1:n.889+1723C>G
ENST00000678915.1:c.856C>G	ENSP00000504805.1:p.Pro286Ala
ENST00000679224.1:c.625C>G	ENSP00000504475.1:p.Pro209Ala
ENST00000227266.9:c.988C>G	ENSP00000227266.4:p.Pro330Ala
ENST00000533897.1:n.3722C>G
NM_001814.4:c.988C>G , LRG_50t1:c.988C>G	NP_001805.3:p.Pro330Ala
NM_001814.5:c.988C>G	NP_001805.3:p.Pro330Ala
NM_001814.6:c.988C>G MANE Select	NP_001805.4:p.Pro330Ala