Canonical Allele Identifier: CA382022116

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027572T>C (hg19) ; chr11:g.88294404T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294404T>C , CM000673.2:g.88294404T>C	GRCh38
NC_000011.9:g.88027572T>C , CM000673.1:g.88027572T>C	GRCh37
NC_000011.8:g.87667220T>C	NCBI36
NG_007952.1:g.48370A>G , LRG_50:g.48370A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.994A>G MANE Select	ENSP00000227266.4:p.Lys332Glu
ENST00000533897.2:n.5307A>G
ENST00000676612.1:c.*801A>G	ENSP00000504440.1:n.*801A>G
ENST00000677208.1:c.*500A>G	ENSP00000504347.1:n.*500A>G
ENST00000677661.1:c.*671A>G	ENSP00000503323.1:n.*671A>G
ENST00000677802.1:c.*671A>G	ENSP00000504115.1:n.*671A>G
ENST00000678395.1:c.*500A>G	ENSP00000503123.1:n.*500A>G
ENST00000678464.1:c.961A>G	ENSP00000503046.1:p.Lys321Glu
ENST00000678506.1:c.955A>G	ENSP00000503580.1:p.Lys319Glu
ENST00000678520.1:c.*645A>G	ENSP00000503361.1:n.*645A>G
ENST00000678554.1:c.889+1729A>G	ENSP00000504541.1:n.889+1729A>G
ENST00000678915.1:c.862A>G	ENSP00000504805.1:p.Lys288Glu
ENST00000679224.1:c.631A>G	ENSP00000504475.1:p.Lys211Glu
ENST00000227266.9:c.994A>G	ENSP00000227266.4:p.Lys332Glu
ENST00000533897.1:n.3728A>G
NM_001814.4:c.994A>G , LRG_50t1:c.994A>G	NP_001805.3:p.Lys332Glu
NM_001814.5:c.994A>G	NP_001805.3:p.Lys332Glu
NM_001814.6:c.994A>G MANE Select	NP_001805.4:p.Lys332Glu