Canonical Allele Identifier: CA476145198

Gene: CTSC

Linked Data

• gnomAD v4: 11-88294393-T-C
• MyVariant Identifiers: chr11:g.88027561T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294393T>C , CM000673.2:g.88294393T>C	GRCh38
NC_000011.9:g.88027561T>C , CM000673.1:g.88027561T>C	GRCh37
NC_000011.8:g.87667209T>C	NCBI36
NG_007952.1:g.48381A>G , LRG_50:g.48381A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1005A>G MANE Select	ENSP00000227266.4:p.Glu335=
ENST00000533897.2:n.5318A>G
ENST00000676612.1:c.*812A>G	ENSP00000504440.1:n.*812A>G
ENST00000677208.1:c.*511A>G	ENSP00000504347.1:n.*511A>G
ENST00000677661.1:c.*682A>G	ENSP00000503323.1:n.*682A>G
ENST00000677802.1:c.*682A>G	ENSP00000504115.1:n.*682A>G
ENST00000678395.1:c.*511A>G	ENSP00000503123.1:n.*511A>G
ENST00000678464.1:c.972A>G	ENSP00000503046.1:p.Glu324=
ENST00000678506.1:c.966A>G	ENSP00000503580.1:p.Glu322=
ENST00000678520.1:c.*656A>G	ENSP00000503361.1:n.*656A>G
ENST00000678554.1:c.889+1740A>G	ENSP00000504541.1:n.889+1740A>G
ENST00000678915.1:c.873A>G	ENSP00000504805.1:p.Glu291=
ENST00000679224.1:c.642A>G	ENSP00000504475.1:p.Glu214=
ENST00000227266.9:c.1005A>G	ENSP00000227266.4:p.Glu335=
ENST00000533897.1:n.3739A>G
NM_001814.4:c.1005A>G , LRG_50t1:c.1005A>G	NP_001805.3:p.Glu335=
NM_001814.5:c.1005A>G	NP_001805.3:p.Glu335=
NM_001814.6:c.1005A>G MANE Select	NP_001805.4:p.Glu335=