Canonical Allele Identifier: CA225417328

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294383G>A , CM000673.2:g.88294383G>A	GRCh38
NC_000011.9:g.88027551G>A , CM000673.1:g.88027551G>A	GRCh37
NC_000011.8:g.87667199G>A	NCBI36
NG_007952.1:g.48391C>T , LRG_50:g.48391C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001814.6:c.1015C>T MANE Select	NP_001805.4:p.Arg339Cys
ENST00000227266.10:c.1015C>T MANE Select	ENSP00000227266.4:p.Arg339Cys
NM_001814.4:c.1015C>T , LRG_50t1:c.1015C>T	NP_001805.3:p.Arg339Cys
NM_001814.5:c.1015C>T	NP_001805.3:p.Arg339Cys
ENST00000227266.9:c.1015C>T	ENSP00000227266.4:p.Arg339Cys
ENST00000533897.1:n.3749C>T
ENST00000533897.2:n.5328C>T
ENST00000676612.1:c.*822C>T	ENSP00000504440.1:n.*822C>T
ENST00000677208.1:c.*521C>T	ENSP00000504347.1:n.*521C>T
ENST00000677661.1:c.*692C>T	ENSP00000503323.1:n.*692C>T
ENST00000677802.1:c.*692C>T	ENSP00000504115.1:n.*692C>T
ENST00000678395.1:c.*521C>T	ENSP00000503123.1:n.*521C>T
ENST00000678464.1:c.982C>T	ENSP00000503046.1:p.Arg328Cys
ENST00000678506.1:c.976C>T	ENSP00000503580.1:p.Arg326Cys
ENST00000678520.1:c.*666C>T	ENSP00000503361.1:n.*666C>T
ENST00000678554.1:c.889+1750C>T	ENSP00000504541.1:n.889+1750C>T
ENST00000678915.1:c.883C>T	ENSP00000504805.1:p.Arg295Cys
ENST00000679224.1:c.652C>T	ENSP00000504475.1:p.Arg218Cys