Canonical Allele Identifier: CA382022111

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027571T>A (hg19) ; chr11:g.88294403T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294403T>A , CM000673.2:g.88294403T>A	GRCh38
NC_000011.9:g.88027571T>A , CM000673.1:g.88027571T>A	GRCh37
NC_000011.8:g.87667219T>A	NCBI36
NG_007952.1:g.48371A>T , LRG_50:g.48371A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.995A>T MANE Select	ENSP00000227266.4:p.Lys332Ile
ENST00000533897.2:n.5308A>T
ENST00000676612.1:c.*802A>T	ENSP00000504440.1:n.*802A>T
ENST00000677208.1:c.*501A>T	ENSP00000504347.1:n.*501A>T
ENST00000677661.1:c.*672A>T	ENSP00000503323.1:n.*672A>T
ENST00000677802.1:c.*672A>T	ENSP00000504115.1:n.*672A>T
ENST00000678395.1:c.*501A>T	ENSP00000503123.1:n.*501A>T
ENST00000678464.1:c.962A>T	ENSP00000503046.1:p.Lys321Ile
ENST00000678506.1:c.956A>T	ENSP00000503580.1:p.Lys319Ile
ENST00000678520.1:c.*646A>T	ENSP00000503361.1:n.*646A>T
ENST00000678554.1:c.889+1730A>T	ENSP00000504541.1:n.889+1730A>T
ENST00000678915.1:c.863A>T	ENSP00000504805.1:p.Lys288Ile
ENST00000679224.1:c.632A>T	ENSP00000504475.1:p.Lys211Ile
ENST00000227266.9:c.995A>T	ENSP00000227266.4:p.Lys332Ile
ENST00000533897.1:n.3729A>T
NM_001814.4:c.995A>T , LRG_50t1:c.995A>T	NP_001805.3:p.Lys332Ile
NM_001814.5:c.995A>T	NP_001805.3:p.Lys332Ile
NM_001814.6:c.995A>T MANE Select	NP_001805.4:p.Lys332Ile