Canonical Allele Identifier: CA382022000

Gene: CTSC

Linked Data

• gnomAD v4: 11-88294355-A-G
• COSMIC: COSM1202636
• MyVariant Identifiers: chr11:g.88027523A>G (hg19) ; chr11:g.88294355A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294355A>G , CM000673.2:g.88294355A>G	GRCh38
NC_000011.9:g.88027523A>G , CM000673.1:g.88027523A>G	GRCh37
NC_000011.8:g.87667171A>G	NCBI36
NG_007952.1:g.48419T>C , LRG_50:g.48419T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.1043T>C MANE Select	ENSP00000227266.4:p.Val348Ala
ENST00000533897.2:n.5356T>C
ENST00000676612.1:c.*850T>C	ENSP00000504440.1:n.*850T>C
ENST00000677208.1:c.*549T>C	ENSP00000504347.1:n.*549T>C
ENST00000677661.1:c.*720T>C	ENSP00000503323.1:n.*720T>C
ENST00000677802.1:c.*720T>C	ENSP00000504115.1:n.*720T>C
ENST00000678395.1:c.*549T>C	ENSP00000503123.1:n.*549T>C
ENST00000678464.1:c.1010T>C	ENSP00000503046.1:p.Val337Ala
ENST00000678506.1:c.1004T>C	ENSP00000503580.1:p.Val335Ala
ENST00000678520.1:c.*694T>C	ENSP00000503361.1:n.*694T>C
ENST00000678554.1:c.889+1778T>C	ENSP00000504541.1:n.889+1778T>C
ENST00000678915.1:c.911T>C	ENSP00000504805.1:p.Val304Ala
ENST00000679224.1:c.680T>C	ENSP00000504475.1:p.Val227Ala
ENST00000227266.9:c.1043T>C	ENSP00000227266.4:p.Val348Ala
ENST00000533897.1:n.3777T>C
NM_001814.4:c.1043T>C , LRG_50t1:c.1043T>C	NP_001805.3:p.Val348Ala
NM_001814.5:c.1043T>C	NP_001805.3:p.Val348Ala
NM_001814.6:c.1043T>C MANE Select	NP_001805.4:p.Val348Ala