Canonical Allele Identifier: CA476145234

Gene: CTSC

Linked Data

• ClinVar Variation Id: 2942572
• ClinVar RCV Id: RCV003807738
• MyVariant Identifiers: chr11:g.88027624A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294456A>G , CM000673.2:g.88294456A>G	GRCh38
NC_000011.9:g.88027624A>G , CM000673.1:g.88027624A>G	GRCh37
NC_000011.8:g.87667272A>G	NCBI36
NG_007952.1:g.48318T>C , LRG_50:g.48318T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.942T>C MANE Select	ENSP00000227266.4:p.Phe314=
ENST00000533897.2:n.5255T>C
ENST00000676612.1:c.*749T>C	ENSP00000504440.1:n.*749T>C
ENST00000677208.1:c.*448T>C	ENSP00000504347.1:n.*448T>C
ENST00000677661.1:c.*619T>C	ENSP00000503323.1:n.*619T>C
ENST00000677802.1:c.*619T>C	ENSP00000504115.1:n.*619T>C
ENST00000678395.1:c.*448T>C	ENSP00000503123.1:n.*448T>C
ENST00000678464.1:c.909T>C	ENSP00000503046.1:p.Phe303=
ENST00000678506.1:c.903T>C	ENSP00000503580.1:p.Phe301=
ENST00000678520.1:c.*593T>C	ENSP00000503361.1:n.*593T>C
ENST00000678554.1:c.889+1677T>C	ENSP00000504541.1:n.889+1677T>C
ENST00000678915.1:c.810T>C	ENSP00000504805.1:p.Phe270=
ENST00000679224.1:c.579T>C	ENSP00000504475.1:p.Phe193=
ENST00000227266.9:c.942T>C	ENSP00000227266.4:p.Phe314=
ENST00000533897.1:n.3676T>C
NM_001814.4:c.942T>C , LRG_50t1:c.942T>C	NP_001805.3:p.Phe314=
NM_001814.5:c.942T>C	NP_001805.3:p.Phe314=
NM_001814.6:c.942T>C MANE Select	NP_001805.4:p.Phe314=