Canonical Allele Identifier: CA476145225

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027615C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294447C>A , CM000673.2:g.88294447C>A	GRCh38
NC_000011.9:g.88027615C>A , CM000673.1:g.88027615C>A	GRCh37
NC_000011.8:g.87667263C>A	NCBI36
NG_007952.1:g.48327G>T , LRG_50:g.48327G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.951G>T MANE Select	ENSP00000227266.4:p.Val317=
ENST00000533897.2:n.5264G>T
ENST00000676612.1:c.*758G>T	ENSP00000504440.1:n.*758G>T
ENST00000677208.1:c.*457G>T	ENSP00000504347.1:n.*457G>T
ENST00000677661.1:c.*628G>T	ENSP00000503323.1:n.*628G>T
ENST00000677802.1:c.*628G>T	ENSP00000504115.1:n.*628G>T
ENST00000678395.1:c.*457G>T	ENSP00000503123.1:n.*457G>T
ENST00000678464.1:c.918G>T	ENSP00000503046.1:p.Val306=
ENST00000678506.1:c.912G>T	ENSP00000503580.1:p.Val304=
ENST00000678520.1:c.*602G>T	ENSP00000503361.1:n.*602G>T
ENST00000678554.1:c.889+1686G>T	ENSP00000504541.1:n.889+1686G>T
ENST00000678915.1:c.819G>T	ENSP00000504805.1:p.Val273=
ENST00000679224.1:c.588G>T	ENSP00000504475.1:p.Val196=
ENST00000227266.9:c.951G>T	ENSP00000227266.4:p.Val317=
ENST00000533897.1:n.3685G>T
NM_001814.4:c.951G>T , LRG_50t1:c.951G>T	NP_001805.3:p.Val317=
NM_001814.5:c.951G>T	NP_001805.3:p.Val317=
NM_001814.6:c.951G>T MANE Select	NP_001805.4:p.Val317=