Canonical Allele Identifier: CA382022104

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027568A>C (hg19) ; chr11:g.88294400A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294400A>C , CM000673.2:g.88294400A>C	GRCh38
NC_000011.9:g.88027568A>C , CM000673.1:g.88027568A>C	GRCh37
NC_000011.8:g.87667216A>C	NCBI36
NG_007952.1:g.48374T>G , LRG_50:g.48374T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.998T>G MANE Select	ENSP00000227266.4:p.Met333Arg
ENST00000533897.2:n.5311T>G
ENST00000676612.1:c.*805T>G	ENSP00000504440.1:n.*805T>G
ENST00000677208.1:c.*504T>G	ENSP00000504347.1:n.*504T>G
ENST00000677661.1:c.*675T>G	ENSP00000503323.1:n.*675T>G
ENST00000677802.1:c.*675T>G	ENSP00000504115.1:n.*675T>G
ENST00000678395.1:c.*504T>G	ENSP00000503123.1:n.*504T>G
ENST00000678464.1:c.965T>G	ENSP00000503046.1:p.Met322Arg
ENST00000678506.1:c.959T>G	ENSP00000503580.1:p.Met320Arg
ENST00000678520.1:c.*649T>G	ENSP00000503361.1:n.*649T>G
ENST00000678554.1:c.889+1733T>G	ENSP00000504541.1:n.889+1733T>G
ENST00000678915.1:c.866T>G	ENSP00000504805.1:p.Met289Arg
ENST00000679224.1:c.635T>G	ENSP00000504475.1:p.Met212Arg
ENST00000227266.9:c.998T>G	ENSP00000227266.4:p.Met333Arg
ENST00000533897.1:n.3732T>G
NM_001814.4:c.998T>G , LRG_50t1:c.998T>G	NP_001805.3:p.Met333Arg
NM_001814.5:c.998T>G	NP_001805.3:p.Met333Arg
NM_001814.6:c.998T>G MANE Select	NP_001805.4:p.Met333Arg