Canonical Allele Identifier: CA6219784

Gene: CTSC

Linked Data

• dbSNP Id: rs771667842
• ExAC: 11:88027522 T / C
• gnomAD v2: 11-88027522-T-C
• gnomAD v4: 11-88294354-T-C
• MyVariant Identifiers: chr11:g.88027522T>C (hg19) ; chr11:g.88294354T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294354T>C , CM000673.2:g.88294354T>C	GRCh38
NC_000011.9:g.88027522T>C , CM000673.1:g.88027522T>C	GRCh37
NC_000011.8:g.87667170T>C	NCBI36
NG_007952.1:g.48420A>G , LRG_50:g.48420A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.1044A>G MANE Select	ENSP00000227266.4:p.Val348=
ENST00000533897.2:n.5357A>G
ENST00000676612.1:c.*851A>G	ENSP00000504440.1:n.*851A>G
ENST00000677208.1:c.*550A>G	ENSP00000504347.1:n.*550A>G
ENST00000677661.1:c.*721A>G	ENSP00000503323.1:n.*721A>G
ENST00000677802.1:c.*721A>G	ENSP00000504115.1:n.*721A>G
ENST00000678395.1:c.*550A>G	ENSP00000503123.1:n.*550A>G
ENST00000678464.1:c.1011A>G	ENSP00000503046.1:p.Val337=
ENST00000678506.1:c.1005A>G	ENSP00000503580.1:p.Val335=
ENST00000678520.1:c.*695A>G	ENSP00000503361.1:n.*695A>G
ENST00000678554.1:c.889+1779A>G	ENSP00000504541.1:n.889+1779A>G
ENST00000678915.1:c.912A>G	ENSP00000504805.1:p.Val304=
ENST00000679224.1:c.681A>G	ENSP00000504475.1:p.Val227=
ENST00000227266.9:c.1044A>G	ENSP00000227266.4:p.Val348=
ENST00000533897.1:n.3778A>G
NM_001814.4:c.1044A>G , LRG_50t1:c.1044A>G	NP_001805.3:p.Val348=
NM_001814.5:c.1044A>G	NP_001805.3:p.Val348=
NM_001814.6:c.1044A>G MANE Select	NP_001805.4:p.Val348=