Canonical Allele Identifier: CA382026760

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88045673G>C (hg19) ; chr11:g.88312505G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88312505G>C , CM000673.2:g.88312505G>C	GRCh38
NC_000011.9:g.88045673G>C , CM000673.1:g.88045673G>C	GRCh37
NC_000011.8:g.87685321G>C	NCBI36
NG_007952.1:g.30269C>G , LRG_50:g.30269C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.368C>G MANE Select	ENSP00000227266.4:p.Thr123Ser
ENST00000527018.6:c.368C>G	ENSP00000432556.2:p.Thr123Ser
ENST00000533897.2:n.416C>G
ENST00000676612.1:c.*175C>G	ENSP00000504440.1:n.*175C>G
ENST00000677208.1:c.319-3187C>G	ENSP00000504347.1:n.319-3187C>G
ENST00000677661.1:c.*45C>G	ENSP00000503323.1:n.*45C>G
ENST00000677802.1:c.*45C>G	ENSP00000504115.1:n.*45C>G
ENST00000678395.1:c.368C>G	ENSP00000503123.1:p.Thr123Ser
ENST00000678464.1:c.368C>G	ENSP00000503046.1:p.Thr123Ser
ENST00000678506.1:c.368C>G	ENSP00000503580.1:p.Thr123Ser
ENST00000678520.1:c.*175C>G	ENSP00000503361.1:n.*175C>G
ENST00000678554.1:c.368C>G	ENSP00000504541.1:p.Thr123Ser
ENST00000678915.1:c.368C>G	ENSP00000504805.1:p.Thr123Ser
ENST00000679224.1:c.5C>G	ENSP00000504475.1:p.Thr2Ser
ENST00000227266.9:c.368C>G	ENSP00000227266.4:p.Thr123Ser
ENST00000527018.5:c.238C>G
ENST00000533865.5:n.390C>G
NM_001814.4:c.368C>G , LRG_50t1:c.368C>G	NP_001805.3:p.Thr123Ser
NM_001814.5:c.368C>G	NP_001805.3:p.Thr123Ser
NM_001814.6:c.368C>G MANE Select	NP_001805.4:p.Thr123Ser