Canonical Allele Identifier: CA382023577

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88300539G>A , CM000673.2:g.88300539G>A	GRCh38
NC_000011.9:g.88033707G>A , CM000673.1:g.88033707G>A	GRCh37
NC_000011.8:g.87673355G>A	NCBI36
NG_007952.1:g.42235C>T , LRG_50:g.42235C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001814.6:c.748C>T MANE Select	NP_001805.4:p.Arg250Ter
ENST00000227266.10:c.748C>T MANE Select	ENSP00000227266.4:p.Arg250Ter
NM_001814.4:c.748C>T , LRG_50t1:c.748C>T	NP_001805.3:p.Arg250Ter
NM_001814.5:c.748C>T	NP_001805.3:p.Arg250Ter
ENST00000227266.9:c.748C>T	ENSP00000227266.4:p.Arg250Ter
ENST00000527018.5:c.618C>T
ENST00000527018.6:c.748C>T	ENSP00000432556.2:p.Arg250Ter
ENST00000533897.2:n.796C>T
ENST00000676612.1:c.*555C>T	ENSP00000504440.1:n.*555C>T
ENST00000677208.1:c.*254C>T	ENSP00000504347.1:n.*254C>T
ENST00000677661.1:c.*425C>T	ENSP00000503323.1:n.*425C>T
ENST00000677802.1:c.*425C>T	ENSP00000504115.1:n.*425C>T
ENST00000678065.1:n.308C>T
ENST00000678395.1:c.*254C>T	ENSP00000503123.1:n.*254C>T
ENST00000678464.1:c.748C>T	ENSP00000503046.1:p.Arg250Ter
ENST00000678506.1:c.709C>T	ENSP00000503580.1:p.Arg237Ter
ENST00000678520.1:c.*399C>T	ENSP00000503361.1:n.*399C>T
ENST00000678554.1:c.748C>T	ENSP00000504541.1:p.Arg250Ter
ENST00000678915.1:c.748C>T	ENSP00000504805.1:p.Arg250Ter
ENST00000679224.1:c.385C>T	ENSP00000504475.1:p.Arg129Ter