Canonical Allele Identifier: CA225420857

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88300530C>T , CM000673.2:g.88300530C>T	GRCh38
NC_000011.9:g.88033698C>T , CM000673.1:g.88033698C>T	GRCh37
NC_000011.8:g.87673346C>T	NCBI36
NG_007952.1:g.42244G>A , LRG_50:g.42244G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001814.6:c.757G>A MANE Select	NP_001805.4:p.Ala253Thr
ENST00000227266.10:c.757G>A MANE Select	ENSP00000227266.4:p.Ala253Thr
NM_001814.4:c.757G>A , LRG_50t1:c.757G>A	NP_001805.3:p.Ala253Thr
NM_001814.5:c.757G>A	NP_001805.3:p.Ala253Thr
ENST00000227266.9:c.757G>A	ENSP00000227266.4:p.Ala253Thr
ENST00000527018.5:c.627G>A
ENST00000527018.6:c.757G>A	ENSP00000432556.2:p.Ala253Thr
ENST00000533897.2:n.805G>A
ENST00000676612.1:c.*564G>A	ENSP00000504440.1:n.*564G>A
ENST00000677208.1:c.*263G>A	ENSP00000504347.1:n.*263G>A
ENST00000677661.1:c.*434G>A	ENSP00000503323.1:n.*434G>A
ENST00000677802.1:c.*434G>A	ENSP00000504115.1:n.*434G>A
ENST00000678065.1:n.317G>A
ENST00000678395.1:c.*263G>A	ENSP00000503123.1:n.*263G>A
ENST00000678464.1:c.757G>A	ENSP00000503046.1:p.Ala253Thr
ENST00000678506.1:c.718G>A	ENSP00000503580.1:p.Ala240Thr
ENST00000678520.1:c.*408G>A	ENSP00000503361.1:n.*408G>A
ENST00000678554.1:c.757G>A	ENSP00000504541.1:p.Ala253Thr
ENST00000678915.1:c.757G>A	ENSP00000504805.1:p.Gly253Ser
ENST00000679224.1:c.394G>A	ENSP00000504475.1:p.Ala132Thr