Canonical Allele Identifier: CA2554709790

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294515A>G , CM000673.2:g.88294515A>G	GRCh38
NC_000011.9:g.88027683A>G , CM000673.1:g.88027683A>G	GRCh37
NC_000011.8:g.87667331A>G	NCBI36
NG_007952.1:g.48259T>C , LRG_50:g.48259T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.890-7T>C MANE Select	ENSP00000227266.4:n.890-7T>C
ENST00000533897.2:n.5203-7T>C
ENST00000676612.1:c.*697-7T>C	ENSP00000504440.1:n.*697-7T>C
ENST00000677208.1:c.*396-7T>C	ENSP00000504347.1:n.*396-7T>C
ENST00000677661.1:c.*567-7T>C	ENSP00000503323.1:n.*567-7T>C
ENST00000677802.1:c.*567-7T>C	ENSP00000504115.1:n.*567-7T>C
ENST00000678395.1:c.*396-7T>C	ENSP00000503123.1:n.*396-7T>C
ENST00000678464.1:c.890-40T>C	ENSP00000503046.1:n.890-40T>C
ENST00000678506.1:c.851-7T>C	ENSP00000503580.1:n.851-7T>C
ENST00000678520.1:c.*541-7T>C	ENSP00000503361.1:n.*541-7T>C
ENST00000678554.1:c.889+1618T>C	ENSP00000504541.1:n.889+1618T>C
ENST00000678915.1:c.758-7T>C	ENSP00000504805.1:n.758-7T>C
ENST00000679224.1:c.527-7T>C	ENSP00000504475.1:n.527-7T>C
ENST00000227266.9:c.890-7T>C	ENSP00000227266.4:n.890-7T>C
ENST00000533897.1:n.3624-7T>C
NM_001814.4:c.890-7T>C , LRG_50t1:c.890-7T>C	NP_001805.3:n.890-7T>C
NM_001814.5:c.890-7T>C	NP_001805.3:n.890-7T>C
NM_001814.6:c.890-7T>C MANE Select	NP_001805.4:n.890-7T>C