Canonical Allele Identifier: CA382022426

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88296165T>A , CM000673.2:g.88296165T>A	GRCh38
NC_000011.9:g.88029333T>A , CM000673.1:g.88029333T>A	GRCh37
NC_000011.8:g.87668981T>A	NCBI36
NG_007952.1:g.46609A>T , LRG_50:g.46609A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001814.6:c.857A>T MANE Select	NP_001805.4:p.Gln286Leu
ENST00000227266.10:c.857A>T MANE Select	ENSP00000227266.4:p.Gln286Leu
NM_001814.4:c.857A>T , LRG_50t1:c.857A>T	NP_001805.3:p.Gln286Leu
NM_001814.5:c.857A>T	NP_001805.3:p.Gln286Leu
ENST00000227266.9:c.857A>T	ENSP00000227266.4:p.Gln286Leu
ENST00000527018.5:c.727A>T
ENST00000527018.6:c.857A>T	ENSP00000432556.2:p.Gln286Leu
ENST00000533897.1:n.3591A>T
ENST00000533897.2:n.5170A>T
ENST00000676612.1:c.*664A>T	ENSP00000504440.1:n.*664A>T
ENST00000677208.1:c.*363A>T	ENSP00000504347.1:n.*363A>T
ENST00000677661.1:c.*534A>T	ENSP00000503323.1:n.*534A>T
ENST00000677802.1:c.*534A>T	ENSP00000504115.1:n.*534A>T
ENST00000678395.1:c.*363A>T	ENSP00000503123.1:n.*363A>T
ENST00000678464.1:c.857A>T	ENSP00000503046.1:p.Gln286Leu
ENST00000678506.1:c.818A>T	ENSP00000503580.1:p.Gln273Leu
ENST00000678520.1:c.*508A>T	ENSP00000503361.1:n.*508A>T
ENST00000678554.1:c.857A>T	ENSP00000504541.1:p.Gln286Leu
ENST00000678915.1:c.758-1657A>T	ENSP00000504805.1:n.758-1657A>T
ENST00000679224.1:c.494A>T	ENSP00000504475.1:p.Gln165Leu