Canonical Allele Identifier: CA382022218

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027619A>T (hg19) ; chr11:g.88294451A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294451A>T , CM000673.2:g.88294451A>T	GRCh38
NC_000011.9:g.88027619A>T , CM000673.1:g.88027619A>T	GRCh37
NC_000011.8:g.87667267A>T	NCBI36
NG_007952.1:g.48323T>A , LRG_50:g.48323T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.947T>A MANE Select	ENSP00000227266.4:p.Leu316Gln
ENST00000533897.2:n.5260T>A
ENST00000676612.1:c.*754T>A	ENSP00000504440.1:n.*754T>A
ENST00000677208.1:c.*453T>A	ENSP00000504347.1:n.*453T>A
ENST00000677661.1:c.*624T>A	ENSP00000503323.1:n.*624T>A
ENST00000677802.1:c.*624T>A	ENSP00000504115.1:n.*624T>A
ENST00000678395.1:c.*453T>A	ENSP00000503123.1:n.*453T>A
ENST00000678464.1:c.914T>A	ENSP00000503046.1:p.Leu305Gln
ENST00000678506.1:c.908T>A	ENSP00000503580.1:p.Leu303Gln
ENST00000678520.1:c.*598T>A	ENSP00000503361.1:n.*598T>A
ENST00000678554.1:c.889+1682T>A	ENSP00000504541.1:n.889+1682T>A
ENST00000678915.1:c.815T>A	ENSP00000504805.1:p.Leu272Gln
ENST00000679224.1:c.584T>A	ENSP00000504475.1:p.Leu195Gln
ENST00000227266.9:c.947T>A	ENSP00000227266.4:p.Leu316Gln
ENST00000533897.1:n.3681T>A
NM_001814.4:c.947T>A , LRG_50t1:c.947T>A	NP_001805.3:p.Leu316Gln
NM_001814.5:c.947T>A	NP_001805.3:p.Leu316Gln
NM_001814.6:c.947T>A MANE Select	NP_001805.4:p.Leu316Gln