Canonical Allele Identifier: CA382021995

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027520C>T (hg19) ; chr11:g.88294352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294352C>T , CM000673.2:g.88294352C>T	GRCh38
NC_000011.9:g.88027520C>T , CM000673.1:g.88027520C>T	GRCh37
NC_000011.8:g.87667168C>T	NCBI36
NG_007952.1:g.48422G>A , LRG_50:g.48422G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.1046G>A MANE Select	ENSP00000227266.4:p.Gly349Glu
ENST00000533897.2:n.5359G>A
ENST00000676612.1:c.*853G>A	ENSP00000504440.1:n.*853G>A
ENST00000677208.1:c.*552G>A	ENSP00000504347.1:n.*552G>A
ENST00000677661.1:c.*723G>A	ENSP00000503323.1:n.*723G>A
ENST00000677802.1:c.*723G>A	ENSP00000504115.1:n.*723G>A
ENST00000678395.1:c.*552G>A	ENSP00000503123.1:n.*552G>A
ENST00000678464.1:c.1013G>A	ENSP00000503046.1:p.Gly338Glu
ENST00000678506.1:c.1007G>A	ENSP00000503580.1:p.Gly336Glu
ENST00000678520.1:c.*697G>A	ENSP00000503361.1:n.*697G>A
ENST00000678554.1:c.889+1781G>A	ENSP00000504541.1:n.889+1781G>A
ENST00000678915.1:c.914G>A	ENSP00000504805.1:p.Gly305Glu
ENST00000679224.1:c.683G>A	ENSP00000504475.1:p.Gly228Glu
ENST00000227266.9:c.1046G>A	ENSP00000227266.4:p.Gly349Glu
ENST00000533897.1:n.3780G>A
NM_001814.4:c.1046G>A , LRG_50t1:c.1046G>A	NP_001805.3:p.Gly349Glu
NM_001814.5:c.1046G>A	NP_001805.3:p.Gly349Glu
NM_001814.6:c.1046G>A MANE Select	NP_001805.4:p.Gly349Glu