Canonical Allele Identifier: CA382021987

Gene: CTSC

Linked Data

• dbSNP Id: rs1944275442
• gnomAD v4: 11-88294349-C-A
• MyVariant Identifiers: chr11:g.88027517C>A (hg19) ; chr11:g.88294349C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294349C>A , CM000673.2:g.88294349C>A	GRCh38
NC_000011.9:g.88027517C>A , CM000673.1:g.88027517C>A	GRCh37
NC_000011.8:g.87667165C>A	NCBI36
NG_007952.1:g.48425G>T , LRG_50:g.48425G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.1049G>T MANE Select	ENSP00000227266.4:p.Gly350Val
ENST00000533897.2:n.5362G>T
ENST00000676612.1:c.*856G>T	ENSP00000504440.1:n.*856G>T
ENST00000677208.1:c.*555G>T	ENSP00000504347.1:n.*555G>T
ENST00000677661.1:c.*726G>T	ENSP00000503323.1:n.*726G>T
ENST00000677802.1:c.*726G>T	ENSP00000504115.1:n.*726G>T
ENST00000678395.1:c.*555G>T	ENSP00000503123.1:n.*555G>T
ENST00000678464.1:c.1016G>T	ENSP00000503046.1:p.Gly339Val
ENST00000678506.1:c.1010G>T	ENSP00000503580.1:p.Gly337Val
ENST00000678520.1:c.*700G>T	ENSP00000503361.1:n.*700G>T
ENST00000678554.1:c.889+1784G>T	ENSP00000504541.1:n.889+1784G>T
ENST00000678915.1:c.917G>T	ENSP00000504805.1:p.Gly306Val
ENST00000679224.1:c.686G>T	ENSP00000504475.1:p.Gly229Val
ENST00000227266.9:c.1049G>T	ENSP00000227266.4:p.Gly350Val
ENST00000533897.1:n.3783G>T
NM_001814.4:c.1049G>T , LRG_50t1:c.1049G>T	NP_001805.3:p.Gly350Val
NM_001814.5:c.1049G>T	NP_001805.3:p.Gly350Val
NM_001814.6:c.1049G>T MANE Select	NP_001805.4:p.Gly350Val