Canonical Allele Identifier: CA601191308

Gene: CTSC

Linked Data

• dbSNP Id: rs1319577627
• gnomAD v2: 11-88042198-T-A
• gnomAD v3: 11-88309030-T-A
• gnomAD v4: 11-88309030-T-A
• MyVariant Identifiers: chr11:g.88042198T>A (hg19) ; chr11:g.88309030T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88309030T>A , CM000673.2:g.88309030T>A	GRCh38
NC_000011.9:g.88042198T>A , CM000673.1:g.88042198T>A	GRCh37
NC_000011.8:g.87681846T>A	NCBI36
NG_007952.1:g.33744A>T , LRG_50:g.33744A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.641+133A>T MANE Select	ENSP00000227266.4:n.641+133A>T
ENST00000527018.6:c.641+133A>T	ENSP00000432556.2:n.641+133A>T
ENST00000533897.2:n.689+133A>T
ENST00000676612.1:c.*448+133A>T	ENSP00000504440.1:n.*448+133A>T
ENST00000677208.1:c.*147+133A>T	ENSP00000504347.1:n.*147+133A>T
ENST00000677661.1:c.*318+133A>T	ENSP00000503323.1:n.*318+133A>T
ENST00000677802.1:c.*318+133A>T	ENSP00000504115.1:n.*318+133A>T
ENST00000678065.1:n.201+133A>T
ENST00000678395.1:c.*147+133A>T	ENSP00000503123.1:n.*147+133A>T
ENST00000678464.1:c.641+133A>T	ENSP00000503046.1:n.641+133A>T
ENST00000678506.1:c.602+133A>T	ENSP00000503580.1:n.602+133A>T
ENST00000678520.1:c.*292+3358A>T	ENSP00000503361.1:n.*292+3358A>T
ENST00000678554.1:c.641+133A>T	ENSP00000504541.1:n.641+133A>T
ENST00000678915.1:c.641+133A>T	ENSP00000504805.1:n.641+133A>T
ENST00000679224.1:c.278+133A>T	ENSP00000504475.1:n.278+133A>T
ENST00000227266.9:c.641+133A>T	ENSP00000227266.4:n.641+133A>T
ENST00000527018.5:c.511+133A>T
NM_001814.4:c.641+133A>T , LRG_50t1:c.641+133A>T	NP_001805.3:n.641+133A>T
NM_001814.5:c.641+133A>T	NP_001805.3:n.641+133A>T
NM_001814.6:c.641+133A>T MANE Select	NP_001805.4:n.641+133A>T