Canonical Allele Identifier: CA382022130

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027580G>A (hg19) ; chr11:g.88294412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294412G>A , CM000673.2:g.88294412G>A	GRCh38
NC_000011.9:g.88027580G>A , CM000673.1:g.88027580G>A	GRCh37
NC_000011.8:g.87667228G>A	NCBI36
NG_007952.1:g.48362C>T , LRG_50:g.48362C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.986C>T MANE Select	ENSP00000227266.4:p.Ser329Phe
ENST00000533897.2:n.5299C>T
ENST00000676612.1:c.*793C>T	ENSP00000504440.1:n.*793C>T
ENST00000677208.1:c.*492C>T	ENSP00000504347.1:n.*492C>T
ENST00000677661.1:c.*663C>T	ENSP00000503323.1:n.*663C>T
ENST00000677802.1:c.*663C>T	ENSP00000504115.1:n.*663C>T
ENST00000678395.1:c.*492C>T	ENSP00000503123.1:n.*492C>T
ENST00000678464.1:c.953C>T	ENSP00000503046.1:p.Ser318Phe
ENST00000678506.1:c.947C>T	ENSP00000503580.1:p.Ser316Phe
ENST00000678520.1:c.*637C>T	ENSP00000503361.1:n.*637C>T
ENST00000678554.1:c.889+1721C>T	ENSP00000504541.1:n.889+1721C>T
ENST00000678915.1:c.854C>T	ENSP00000504805.1:p.Ser285Phe
ENST00000679224.1:c.623C>T	ENSP00000504475.1:p.Ser208Phe
ENST00000227266.9:c.986C>T	ENSP00000227266.4:p.Ser329Phe
ENST00000533897.1:n.3720C>T
NM_001814.4:c.986C>T , LRG_50t1:c.986C>T	NP_001805.3:p.Ser329Phe
NM_001814.5:c.986C>T	NP_001805.3:p.Ser329Phe
NM_001814.6:c.986C>T MANE Select	NP_001805.4:p.Ser329Phe