Canonical Allele Identifier: CA681448908

Gene: CTSC

Linked Data

• dbSNP Id: rs916750748
• gnomAD v3: 11-88300426-T-C
• gnomAD v4: 11-88300426-T-C
• MyVariant Identifiers: chr11:g.88033594T>C (hg19) ; chr11:g.88300426T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88300426T>C , CM000673.2:g.88300426T>C	GRCh38
NC_000011.9:g.88033594T>C , CM000673.1:g.88033594T>C	GRCh37
NC_000011.8:g.87673242T>C	NCBI36
NG_007952.1:g.42348A>G , LRG_50:g.42348A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.757+104A>G MANE Select	ENSP00000227266.4:n.757+104A>G
ENST00000527018.6:c.757+104A>G	ENSP00000432556.2:n.757+104A>G
ENST00000533897.2:n.909A>G
ENST00000676612.1:c.*564+104A>G	ENSP00000504440.1:n.*564+104A>G
ENST00000677208.1:c.*263+104A>G	ENSP00000504347.1:n.*263+104A>G
ENST00000677661.1:c.*434+104A>G	ENSP00000503323.1:n.*434+104A>G
ENST00000677802.1:c.*434+104A>G	ENSP00000504115.1:n.*434+104A>G
ENST00000678065.1:n.421A>G
ENST00000678395.1:c.*263+104A>G	ENSP00000503123.1:n.*263+104A>G
ENST00000678464.1:c.757+104A>G	ENSP00000503046.1:n.757+104A>G
ENST00000678506.1:c.718+104A>G	ENSP00000503580.1:n.718+104A>G
ENST00000678520.1:c.*408+104A>G	ENSP00000503361.1:n.*408+104A>G
ENST00000678554.1:c.757+104A>G	ENSP00000504541.1:n.757+104A>G
ENST00000678915.1:c.757+104A>G	ENSP00000504805.1:n.757+104A>G
ENST00000679224.1:c.394+104A>G	ENSP00000504475.1:n.394+104A>G
ENST00000227266.9:c.757+104A>G	ENSP00000227266.4:n.757+104A>G
ENST00000527018.5:c.627+104A>G
NM_001814.4:c.757+104A>G , LRG_50t1:c.757+104A>G	NP_001805.3:n.757+104A>G
NM_001814.5:c.757+104A>G	NP_001805.3:n.757+104A>G
NM_001814.6:c.757+104A>G MANE Select	NP_001805.4:n.757+104A>G