Canonical Allele Identifier: CA382022048

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027544T>A (hg19) ; chr11:g.88294376T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294376T>A , CM000673.2:g.88294376T>A	GRCh38
NC_000011.9:g.88027544T>A , CM000673.1:g.88027544T>A	GRCh37
NC_000011.8:g.87667192T>A	NCBI36
NG_007952.1:g.48398A>T , LRG_50:g.48398A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1022A>T MANE Select	ENSP00000227266.4:p.Tyr341Phe
ENST00000533897.2:n.5335A>T
ENST00000676612.1:c.*829A>T	ENSP00000504440.1:n.*829A>T
ENST00000677208.1:c.*528A>T	ENSP00000504347.1:n.*528A>T
ENST00000677661.1:c.*699A>T	ENSP00000503323.1:n.*699A>T
ENST00000677802.1:c.*699A>T	ENSP00000504115.1:n.*699A>T
ENST00000678395.1:c.*528A>T	ENSP00000503123.1:n.*528A>T
ENST00000678464.1:c.989A>T	ENSP00000503046.1:p.Tyr330Phe
ENST00000678506.1:c.983A>T	ENSP00000503580.1:p.Tyr328Phe
ENST00000678520.1:c.*673A>T	ENSP00000503361.1:n.*673A>T
ENST00000678554.1:c.889+1757A>T	ENSP00000504541.1:n.889+1757A>T
ENST00000678915.1:c.890A>T	ENSP00000504805.1:p.Tyr297Phe
ENST00000679224.1:c.659A>T	ENSP00000504475.1:p.Tyr220Phe
ENST00000227266.9:c.1022A>T	ENSP00000227266.4:p.Tyr341Phe
ENST00000533897.1:n.3756A>T
NM_001814.4:c.1022A>T , LRG_50t1:c.1022A>T	NP_001805.3:p.Tyr341Phe
NM_001814.5:c.1022A>T	NP_001805.3:p.Tyr341Phe
NM_001814.6:c.1022A>T MANE Select	NP_001805.4:p.Tyr341Phe