Canonical Allele Identifier: CA382022083

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027559T>A (hg19) ; chr11:g.88294391T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294391T>A , CM000673.2:g.88294391T>A	GRCh38
NC_000011.9:g.88027559T>A , CM000673.1:g.88027559T>A	GRCh37
NC_000011.8:g.87667207T>A	NCBI36
NG_007952.1:g.48383A>T , LRG_50:g.48383A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1007A>T MANE Select	ENSP00000227266.4:p.Asp336Val
ENST00000533897.2:n.5320A>T
ENST00000676612.1:c.*814A>T	ENSP00000504440.1:n.*814A>T
ENST00000677208.1:c.*513A>T	ENSP00000504347.1:n.*513A>T
ENST00000677661.1:c.*684A>T	ENSP00000503323.1:n.*684A>T
ENST00000677802.1:c.*684A>T	ENSP00000504115.1:n.*684A>T
ENST00000678395.1:c.*513A>T	ENSP00000503123.1:n.*513A>T
ENST00000678464.1:c.974A>T	ENSP00000503046.1:p.Asp325Val
ENST00000678506.1:c.968A>T	ENSP00000503580.1:p.Asp323Val
ENST00000678520.1:c.*658A>T	ENSP00000503361.1:n.*658A>T
ENST00000678554.1:c.889+1742A>T	ENSP00000504541.1:n.889+1742A>T
ENST00000678915.1:c.875A>T	ENSP00000504805.1:p.Asp292Val
ENST00000679224.1:c.644A>T	ENSP00000504475.1:p.Asp215Val
ENST00000227266.9:c.1007A>T	ENSP00000227266.4:p.Asp336Val
ENST00000533897.1:n.3741A>T
NM_001814.4:c.1007A>T , LRG_50t1:c.1007A>T	NP_001805.3:p.Asp336Val
NM_001814.5:c.1007A>T	NP_001805.3:p.Asp336Val
NM_001814.6:c.1007A>T MANE Select	NP_001805.4:p.Asp336Val