Canonical Allele Identifier: CA6219835

Gene: CTSC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88296207C>G , CM000673.2:g.88296207C>G	GRCh38
NC_000011.9:g.88029375C>G , CM000673.1:g.88029375C>G	GRCh37
NC_000011.8:g.87669023C>G	NCBI36
NG_007952.1:g.46567G>C , LRG_50:g.46567G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.815G>C MANE Select	ENSP00000227266.4:p.Arg272Pro
ENST00000527018.6:c.815G>C	ENSP00000432556.2:p.Arg272Pro
ENST00000533897.2:n.5128G>C
ENST00000676612.1:c.*622G>C	ENSP00000504440.1:n.*622G>C
ENST00000677208.1:c.*321G>C	ENSP00000504347.1:n.*321G>C
ENST00000677661.1:c.*492G>C	ENSP00000503323.1:n.*492G>C
ENST00000677802.1:c.*492G>C	ENSP00000504115.1:n.*492G>C
ENST00000678395.1:c.*321G>C	ENSP00000503123.1:n.*321G>C
ENST00000678464.1:c.815G>C	ENSP00000503046.1:p.Arg272Pro
ENST00000678506.1:c.776G>C	ENSP00000503580.1:p.Arg259Pro
ENST00000678520.1:c.*466G>C	ENSP00000503361.1:n.*466G>C
ENST00000678554.1:c.815G>C	ENSP00000504541.1:p.Arg272Pro
ENST00000678915.1:c.758-1699G>C	ENSP00000504805.1:n.758-1699G>C
ENST00000679224.1:c.452G>C	ENSP00000504475.1:p.Arg151Pro
ENST00000227266.9:c.815G>C	ENSP00000227266.4:p.Arg272Pro
ENST00000527018.5:c.685G>C
ENST00000533897.1:n.3549G>C
NM_001814.4:c.815G>C , LRG_50t1:c.815G>C	NP_001805.3:p.Arg272Pro
NM_001814.5:c.815G>C	NP_001805.3:p.Arg272Pro
NM_001814.6:c.815G>C MANE Select	NP_001805.4:p.Arg272Pro