Canonical Allele Identifier: CA382022221

Gene: CTSC

Linked Data

• gnomAD v4: 11-88294454-C-A
• MyVariant Identifiers: chr11:g.88027622C>A (hg19) ; chr11:g.88294454C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294454C>A , CM000673.2:g.88294454C>A	GRCh38
NC_000011.9:g.88027622C>A , CM000673.1:g.88027622C>A	GRCh37
NC_000011.8:g.87667270C>A	NCBI36
NG_007952.1:g.48320G>T , LRG_50:g.48320G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.944G>T MANE Select	ENSP00000227266.4:p.Gly315Val
ENST00000533897.2:n.5257G>T
ENST00000676612.1:c.*751G>T	ENSP00000504440.1:n.*751G>T
ENST00000677208.1:c.*450G>T	ENSP00000504347.1:n.*450G>T
ENST00000677661.1:c.*621G>T	ENSP00000503323.1:n.*621G>T
ENST00000677802.1:c.*621G>T	ENSP00000504115.1:n.*621G>T
ENST00000678395.1:c.*450G>T	ENSP00000503123.1:n.*450G>T
ENST00000678464.1:c.911G>T	ENSP00000503046.1:p.Gly304Val
ENST00000678506.1:c.905G>T	ENSP00000503580.1:p.Gly302Val
ENST00000678520.1:c.*595G>T	ENSP00000503361.1:n.*595G>T
ENST00000678554.1:c.889+1679G>T	ENSP00000504541.1:n.889+1679G>T
ENST00000678915.1:c.812G>T	ENSP00000504805.1:p.Gly271Val
ENST00000679224.1:c.581G>T	ENSP00000504475.1:p.Gly194Val
ENST00000227266.9:c.944G>T	ENSP00000227266.4:p.Gly315Val
ENST00000533897.1:n.3678G>T
NM_001814.4:c.944G>T , LRG_50t1:c.944G>T	NP_001805.3:p.Gly315Val
NM_001814.5:c.944G>T	NP_001805.3:p.Gly315Val
NM_001814.6:c.944G>T MANE Select	NP_001805.4:p.Gly315Val