Canonical Allele Identifier: CA6219954

Gene: CTSC

Linked Data

• dbSNP Id: rs764436172
• ExAC: 11:88045573 A / G
• gnomAD v2: 11-88045573-A-G
• gnomAD v4: 11-88312405-A-G
• MyVariant Identifiers: chr11:g.88045573A>G (hg19) ; chr11:g.88312405A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88312405A>G , CM000673.2:g.88312405A>G	GRCh38
NC_000011.9:g.88045573A>G , CM000673.1:g.88045573A>G	GRCh37
NC_000011.8:g.87685221A>G	NCBI36
NG_007952.1:g.30369T>C , LRG_50:g.30369T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.468T>C MANE Select	ENSP00000227266.4:p.Leu156=
ENST00000527018.6:c.468T>C	ENSP00000432556.2:p.Leu156=
ENST00000533897.2:n.516T>C
ENST00000676612.1:c.*275T>C	ENSP00000504440.1:n.*275T>C
ENST00000677208.1:c.319-3087T>C	ENSP00000504347.1:n.319-3087T>C
ENST00000677661.1:c.*145T>C	ENSP00000503323.1:n.*145T>C
ENST00000677802.1:c.*145T>C	ENSP00000504115.1:n.*145T>C
ENST00000678395.1:c.423+45T>C	ENSP00000503123.1:n.423+45T>C
ENST00000678464.1:c.468T>C	ENSP00000503046.1:p.Leu156=
ENST00000678506.1:c.446+22T>C	ENSP00000503580.1:n.446+22T>C
ENST00000678520.1:c.*275T>C	ENSP00000503361.1:n.*275T>C
ENST00000678554.1:c.468T>C	ENSP00000504541.1:p.Leu156=
ENST00000678915.1:c.468T>C	ENSP00000504805.1:p.Leu156=
ENST00000679224.1:c.105T>C	ENSP00000504475.1:p.Leu35=
ENST00000227266.9:c.468T>C	ENSP00000227266.4:p.Leu156=
ENST00000527018.5:c.338T>C
ENST00000533865.5:n.490T>C
NM_001814.4:c.468T>C , LRG_50t1:c.468T>C	NP_001805.3:p.Leu156=
NM_001814.5:c.468T>C	NP_001805.3:p.Leu156=
NM_001814.6:c.468T>C MANE Select	NP_001805.4:p.Leu156=