Canonical Allele Identifier: CA382021960

Gene: CTSC

Linked Data

• gnomAD v4: 11-88294337-C-A
• MyVariant Identifiers: chr11:g.88027505C>A (hg19) ; chr11:g.88294337C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294337C>A , CM000673.2:g.88294337C>A	GRCh38
NC_000011.9:g.88027505C>A , CM000673.1:g.88027505C>A	GRCh37
NC_000011.8:g.87667153C>A	NCBI36
NG_007952.1:g.48437G>T , LRG_50:g.48437G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1061G>T MANE Select	ENSP00000227266.4:p.Gly354Val
ENST00000533897.2:n.5374G>T
ENST00000676612.1:c.*868G>T	ENSP00000504440.1:n.*868G>T
ENST00000677208.1:c.*567G>T	ENSP00000504347.1:n.*567G>T
ENST00000677661.1:c.*738G>T	ENSP00000503323.1:n.*738G>T
ENST00000677802.1:c.*738G>T	ENSP00000504115.1:n.*738G>T
ENST00000678395.1:c.*567G>T	ENSP00000503123.1:n.*567G>T
ENST00000678464.1:c.1028G>T	ENSP00000503046.1:p.Gly343Val
ENST00000678506.1:c.1022G>T	ENSP00000503580.1:p.Gly341Val
ENST00000678520.1:c.*712G>T	ENSP00000503361.1:n.*712G>T
ENST00000678554.1:c.889+1796G>T	ENSP00000504541.1:n.889+1796G>T
ENST00000678915.1:c.929G>T	ENSP00000504805.1:p.Gly310Val
ENST00000679224.1:c.698G>T	ENSP00000504475.1:p.Gly233Val
ENST00000227266.9:c.1061G>T	ENSP00000227266.4:p.Gly354Val
ENST00000533897.1:n.3795G>T
NM_001814.4:c.1061G>T , LRG_50t1:c.1061G>T	NP_001805.3:p.Gly354Val
NM_001814.5:c.1061G>T	NP_001805.3:p.Gly354Val
NM_001814.6:c.1061G>T MANE Select	NP_001805.4:p.Gly354Val