Canonical Allele Identifier: CA476145229

Gene: CTSC

Linked Data

• ClinVar Variation Id: 2935660
• ClinVar RCV Id: RCV003793754
• gnomAD v4: 11-88294450-C-T
• MyVariant Identifiers: chr11:g.88027618C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294450C>T , CM000673.2:g.88294450C>T	GRCh38
NC_000011.9:g.88027618C>T , CM000673.1:g.88027618C>T	GRCh37
NC_000011.8:g.87667266C>T	NCBI36
NG_007952.1:g.48324G>A , LRG_50:g.48324G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.948G>A MANE Select	ENSP00000227266.4:p.Leu316=
ENST00000533897.2:n.5261G>A
ENST00000676612.1:c.*755G>A	ENSP00000504440.1:n.*755G>A
ENST00000677208.1:c.*454G>A	ENSP00000504347.1:n.*454G>A
ENST00000677661.1:c.*625G>A	ENSP00000503323.1:n.*625G>A
ENST00000677802.1:c.*625G>A	ENSP00000504115.1:n.*625G>A
ENST00000678395.1:c.*454G>A	ENSP00000503123.1:n.*454G>A
ENST00000678464.1:c.915G>A	ENSP00000503046.1:p.Leu305=
ENST00000678506.1:c.909G>A	ENSP00000503580.1:p.Leu303=
ENST00000678520.1:c.*599G>A	ENSP00000503361.1:n.*599G>A
ENST00000678554.1:c.889+1683G>A	ENSP00000504541.1:n.889+1683G>A
ENST00000678915.1:c.816G>A	ENSP00000504805.1:p.Leu272=
ENST00000679224.1:c.585G>A	ENSP00000504475.1:p.Leu195=
ENST00000227266.9:c.948G>A	ENSP00000227266.4:p.Leu316=
ENST00000533897.1:n.3682G>A
NM_001814.4:c.948G>A , LRG_50t1:c.948G>A	NP_001805.3:p.Leu316=
NM_001814.5:c.948G>A	NP_001805.3:p.Leu316=
NM_001814.6:c.948G>A MANE Select	NP_001805.4:p.Leu316=