Canonical Allele Identifier: CA6219725

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294073C>A , CM000673.2:g.88294073C>A	GRCh38
NC_000011.9:g.88027241C>A , CM000673.1:g.88027241C>A	GRCh37
NC_000011.8:g.87666889C>A	NCBI36
NG_007952.1:g.48701G>T , LRG_50:g.48701G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1325G>T MANE Select	ENSP00000227266.4:p.Arg442Leu
ENST00000533897.2:n.5638G>T
ENST00000676612.1:c.*1132G>T	ENSP00000504440.1:n.*1132G>T
ENST00000677208.1:c.*831G>T	ENSP00000504347.1:n.*831G>T
ENST00000677661.1:c.*1002G>T	ENSP00000503323.1:n.*1002G>T
ENST00000677802.1:c.*1002G>T	ENSP00000504115.1:n.*1002G>T
ENST00000678395.1:c.*831G>T	ENSP00000503123.1:n.*831G>T
ENST00000678464.1:c.1292G>T	ENSP00000503046.1:p.Arg431Leu
ENST00000678506.1:c.1286G>T	ENSP00000503580.1:p.Arg429Leu
ENST00000678520.1:c.*976G>T	ENSP00000503361.1:n.*976G>T
ENST00000678554.1:c.889+2060G>T	ENSP00000504541.1:n.889+2060G>T
ENST00000678915.1:c.1193G>T	ENSP00000504805.1:p.Arg398Leu
ENST00000679224.1:c.962G>T	ENSP00000504475.1:p.Arg321Leu
ENST00000227266.9:c.1325G>T	ENSP00000227266.4:p.Arg442Leu
ENST00000533897.1:n.4059G>T
NM_001814.4:c.1325G>T , LRG_50t1:c.1325G>T	NP_001805.3:p.Arg442Leu
NM_001814.5:c.1325G>T	NP_001805.3:p.Arg442Leu
NM_001814.6:c.1325G>T MANE Select	NP_001805.4:p.Arg442Leu