Canonical Allele Identifier: CA6219721

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294060A>G , CM000673.2:g.88294060A>G	GRCh38
NC_000011.9:g.88027228A>G , CM000673.1:g.88027228A>G	GRCh37
NC_000011.8:g.87666876A>G	NCBI36
NG_007952.1:g.48714T>C , LRG_50:g.48714T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1338T>C MANE Select	ENSP00000227266.4:p.Asp446=
ENST00000533897.2:n.5651T>C
ENST00000676612.1:c.*1145T>C	ENSP00000504440.1:n.*1145T>C
ENST00000677208.1:c.*844T>C	ENSP00000504347.1:n.*844T>C
ENST00000677661.1:c.*1015T>C	ENSP00000503323.1:n.*1015T>C
ENST00000677802.1:c.*1015T>C	ENSP00000504115.1:n.*1015T>C
ENST00000678395.1:c.*844T>C	ENSP00000503123.1:n.*844T>C
ENST00000678464.1:c.1305T>C	ENSP00000503046.1:p.Asp435=
ENST00000678506.1:c.1299T>C	ENSP00000503580.1:p.Asp433=
ENST00000678520.1:c.*989T>C	ENSP00000503361.1:n.*989T>C
ENST00000678554.1:c.889+2073T>C	ENSP00000504541.1:n.889+2073T>C
ENST00000678915.1:c.1206T>C	ENSP00000504805.1:p.Asp402=
ENST00000679224.1:c.975T>C	ENSP00000504475.1:p.Asp325=
ENST00000227266.9:c.1338T>C	ENSP00000227266.4:p.Asp446=
ENST00000533897.1:n.4072T>C
NM_001814.4:c.1338T>C , LRG_50t1:c.1338T>C	NP_001805.3:p.Asp446=
NM_001814.5:c.1338T>C	NP_001805.3:p.Asp446=
NM_001814.6:c.1338T>C MANE Select	NP_001805.4:p.Asp446=