Canonical Allele Identifier: CA6219763

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294225A>C , CM000673.2:g.88294225A>C	GRCh38
NC_000011.9:g.88027393A>C , CM000673.1:g.88027393A>C	GRCh37
NC_000011.8:g.87667041A>C	NCBI36
NG_007952.1:g.48549T>G , LRG_50:g.48549T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001814.6:c.1173T>G MANE Select	NP_001805.4:p.Thr391=
ENST00000227266.10:c.1173T>G MANE Select	ENSP00000227266.4:p.Thr391=
NM_001814.4:c.1173T>G , LRG_50t1:c.1173T>G	NP_001805.3:p.Thr391=
NM_001814.5:c.1173T>G	NP_001805.3:p.Thr391=
ENST00000227266.9:c.1173T>G	ENSP00000227266.4:p.Thr391=
ENST00000533897.1:n.3907T>G
ENST00000533897.2:n.5486T>G
ENST00000676612.1:c.*980T>G	ENSP00000504440.1:n.*980T>G
ENST00000677208.1:c.*679T>G	ENSP00000504347.1:n.*679T>G
ENST00000677661.1:c.*850T>G	ENSP00000503323.1:n.*850T>G
ENST00000677802.1:c.*850T>G	ENSP00000504115.1:n.*850T>G
ENST00000678395.1:c.*679T>G	ENSP00000503123.1:n.*679T>G
ENST00000678464.1:c.1140T>G	ENSP00000503046.1:p.Thr380=
ENST00000678506.1:c.1134T>G	ENSP00000503580.1:p.Thr378=
ENST00000678520.1:c.*824T>G	ENSP00000503361.1:n.*824T>G
ENST00000678554.1:c.889+1908T>G	ENSP00000504541.1:n.889+1908T>G
ENST00000678915.1:c.1041T>G	ENSP00000504805.1:p.Thr347=
ENST00000679224.1:c.810T>G	ENSP00000504475.1:p.Thr270=