Canonical Allele Identifier: CA382022008

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027526T>G (hg19) ; chr11:g.88294358T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294358T>G , CM000673.2:g.88294358T>G	GRCh38
NC_000011.9:g.88027526T>G , CM000673.1:g.88027526T>G	GRCh37
NC_000011.8:g.87667174T>G	NCBI36
NG_007952.1:g.48416A>C , LRG_50:g.48416A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1040A>C MANE Select	ENSP00000227266.4:p.Tyr347Ser
ENST00000533897.2:n.5353A>C
ENST00000676612.1:c.*847A>C	ENSP00000504440.1:n.*847A>C
ENST00000677208.1:c.*546A>C	ENSP00000504347.1:n.*546A>C
ENST00000677661.1:c.*717A>C	ENSP00000503323.1:n.*717A>C
ENST00000677802.1:c.*717A>C	ENSP00000504115.1:n.*717A>C
ENST00000678395.1:c.*546A>C	ENSP00000503123.1:n.*546A>C
ENST00000678464.1:c.1007A>C	ENSP00000503046.1:p.Tyr336Ser
ENST00000678506.1:c.1001A>C	ENSP00000503580.1:p.Tyr334Ser
ENST00000678520.1:c.*691A>C	ENSP00000503361.1:n.*691A>C
ENST00000678554.1:c.889+1775A>C	ENSP00000504541.1:n.889+1775A>C
ENST00000678915.1:c.908A>C	ENSP00000504805.1:p.Tyr303Ser
ENST00000679224.1:c.677A>C	ENSP00000504475.1:p.Tyr226Ser
ENST00000227266.9:c.1040A>C	ENSP00000227266.4:p.Tyr347Ser
ENST00000533897.1:n.3774A>C
NM_001814.4:c.1040A>C , LRG_50t1:c.1040A>C	NP_001805.3:p.Tyr347Ser
NM_001814.5:c.1040A>C	NP_001805.3:p.Tyr347Ser
NM_001814.6:c.1040A>C MANE Select	NP_001805.4:p.Tyr347Ser