Canonical Allele Identifier: CA382026304

Gene: CTSC

Linked Data

• gnomAD v4: 11-88312398-A-G
• MyVariant Identifiers: chr11:g.88045566A>G (hg19) ; chr11:g.88312398A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88312398A>G , CM000673.2:g.88312398A>G	GRCh38
NC_000011.9:g.88045566A>G , CM000673.1:g.88045566A>G	GRCh37
NC_000011.8:g.87685214A>G	NCBI36
NG_007952.1:g.30376T>C , LRG_50:g.30376T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.475T>C MANE Select	ENSP00000227266.4:p.Ser159Pro
ENST00000527018.6:c.475T>C	ENSP00000432556.2:p.Ser159Pro
ENST00000533897.2:n.523T>C
ENST00000676612.1:c.*282T>C	ENSP00000504440.1:n.*282T>C
ENST00000677208.1:c.319-3080T>C	ENSP00000504347.1:n.319-3080T>C
ENST00000677661.1:c.*152T>C	ENSP00000503323.1:n.*152T>C
ENST00000677802.1:c.*152T>C	ENSP00000504115.1:n.*152T>C
ENST00000678395.1:c.423+52T>C	ENSP00000503123.1:n.423+52T>C
ENST00000678464.1:c.475T>C	ENSP00000503046.1:p.Ser159Pro
ENST00000678506.1:c.446+29T>C	ENSP00000503580.1:n.446+29T>C
ENST00000678520.1:c.*282T>C	ENSP00000503361.1:n.*282T>C
ENST00000678554.1:c.475T>C	ENSP00000504541.1:p.Ser159Pro
ENST00000678915.1:c.475T>C	ENSP00000504805.1:p.Ser159Pro
ENST00000679224.1:c.112T>C	ENSP00000504475.1:p.Ser38Pro
ENST00000227266.9:c.475T>C	ENSP00000227266.4:p.Ser159Pro
ENST00000527018.5:c.345T>C
ENST00000533865.5:n.497T>C
NM_001814.4:c.475T>C , LRG_50t1:c.475T>C	NP_001805.3:p.Ser159Pro
NM_001814.5:c.475T>C	NP_001805.3:p.Ser159Pro
NM_001814.6:c.475T>C MANE Select	NP_001805.4:p.Ser159Pro