Canonical Allele Identifier: CA6219739

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294109C>T , CM000673.2:g.88294109C>T	GRCh38
NC_000011.9:g.88027277C>T , CM000673.1:g.88027277C>T	GRCh37
NC_000011.8:g.87666925C>T	NCBI36
NG_007952.1:g.48665G>A , LRG_50:g.48665G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001814.6:c.1289G>A MANE Select	NP_001805.4:p.Gly430Asp
ENST00000227266.10:c.1289G>A MANE Select	ENSP00000227266.4:p.Gly430Asp
NM_001814.4:c.1289G>A , LRG_50t1:c.1289G>A	NP_001805.3:p.Gly430Asp
NM_001814.5:c.1289G>A	NP_001805.3:p.Gly430Asp
ENST00000227266.9:c.1289G>A	ENSP00000227266.4:p.Gly430Asp
ENST00000533897.1:n.4023G>A
ENST00000533897.2:n.5602G>A
ENST00000676612.1:c.*1096G>A	ENSP00000504440.1:n.*1096G>A
ENST00000677208.1:c.*795G>A	ENSP00000504347.1:n.*795G>A
ENST00000677661.1:c.*966G>A	ENSP00000503323.1:n.*966G>A
ENST00000677802.1:c.*966G>A	ENSP00000504115.1:n.*966G>A
ENST00000678395.1:c.*795G>A	ENSP00000503123.1:n.*795G>A
ENST00000678464.1:c.1256G>A	ENSP00000503046.1:p.Gly419Asp
ENST00000678506.1:c.1250G>A	ENSP00000503580.1:p.Gly417Asp
ENST00000678520.1:c.*940G>A	ENSP00000503361.1:n.*940G>A
ENST00000678554.1:c.889+2024G>A	ENSP00000504541.1:n.889+2024G>A
ENST00000678915.1:c.1157G>A	ENSP00000504805.1:p.Gly386Asp
ENST00000679224.1:c.926G>A	ENSP00000504475.1:p.Gly309Asp