Canonical Allele Identifier: CA6219798

Gene: CTSC

Linked Data

• ClinVar Variation Id: 306422
• ClinVar RCV Id: RCV000317693 ; RCV000372393 ; RCV000901089 ; RCV004021524
• dbSNP Id: rs145373075
• ExAC: 11:88027618 C / G
• gnomAD v2: 11-88027618-C-G
• gnomAD v3: 11-88294450-C-G
• gnomAD v4: 11-88294450-C-G
• MyVariant Identifiers: chr11:g.88027618C>G (hg19) ; chr11:g.88294450C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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