Canonical Allele Identifier: CA225420827

Gene: CTSC

Linked Data

• dbSNP Id: rs217116
• gnomAD v4: 11-88300493-A-C
• MyVariant Identifiers: chr11:g.88033661A>C (hg19) ; chr11:g.88300493A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88300493A>C , CM000673.2:g.88300493A>C	GRCh38
NC_000011.9:g.88033661A>C , CM000673.1:g.88033661A>C	GRCh37
NC_000011.8:g.87673309A>C	NCBI36
NG_007952.1:g.42281T>G , LRG_50:g.42281T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.757+37T>G MANE Select	ENSP00000227266.4:n.757+37T>G
ENST00000527018.6:c.757+37T>G	ENSP00000432556.2:n.757+37T>G
ENST00000533897.2:n.842T>G
ENST00000676612.1:c.*564+37T>G	ENSP00000504440.1:n.*564+37T>G
ENST00000677208.1:c.*263+37T>G	ENSP00000504347.1:n.*263+37T>G
ENST00000677661.1:c.*434+37T>G	ENSP00000503323.1:n.*434+37T>G
ENST00000677802.1:c.*434+37T>G	ENSP00000504115.1:n.*434+37T>G
ENST00000678065.1:n.354T>G
ENST00000678395.1:c.*263+37T>G	ENSP00000503123.1:n.*263+37T>G
ENST00000678464.1:c.757+37T>G	ENSP00000503046.1:n.757+37T>G
ENST00000678506.1:c.718+37T>G	ENSP00000503580.1:n.718+37T>G
ENST00000678520.1:c.*408+37T>G	ENSP00000503361.1:n.*408+37T>G
ENST00000678554.1:c.757+37T>G	ENSP00000504541.1:n.757+37T>G
ENST00000678915.1:c.757+37T>G	ENSP00000504805.1:n.757+37T>G
ENST00000679224.1:c.394+37T>G	ENSP00000504475.1:n.394+37T>G
ENST00000227266.9:c.757+37T>G	ENSP00000227266.4:n.757+37T>G
ENST00000527018.5:c.627+37T>G
NM_001814.4:c.757+37T>G , LRG_50t1:c.757+37T>G	NP_001805.3:n.757+37T>G
NM_001814.5:c.757+37T>G	NP_001805.3:n.757+37T>G
NM_001814.6:c.757+37T>G MANE Select	NP_001805.4:n.757+37T>G