Canonical Allele Identifier: CA382022002

Gene: CTSC

Linked Data

• dbSNP Id: rs1230251122
• gnomAD v2: 11-88027524-C-A
• gnomAD v4: 11-88294356-C-A
• MyVariant Identifiers: chr11:g.88027524C>A (hg19) ; chr11:g.88294356C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294356C>A , CM000673.2:g.88294356C>A	GRCh38
NC_000011.9:g.88027524C>A , CM000673.1:g.88027524C>A	GRCh37
NC_000011.8:g.87667172C>A	NCBI36
NG_007952.1:g.48418G>T , LRG_50:g.48418G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.1042G>T MANE Select	ENSP00000227266.4:p.Val348Leu
ENST00000533897.2:n.5355G>T
ENST00000676612.1:c.*849G>T	ENSP00000504440.1:n.*849G>T
ENST00000677208.1:c.*548G>T	ENSP00000504347.1:n.*548G>T
ENST00000677661.1:c.*719G>T	ENSP00000503323.1:n.*719G>T
ENST00000677802.1:c.*719G>T	ENSP00000504115.1:n.*719G>T
ENST00000678395.1:c.*548G>T	ENSP00000503123.1:n.*548G>T
ENST00000678464.1:c.1009G>T	ENSP00000503046.1:p.Val337Leu
ENST00000678506.1:c.1003G>T	ENSP00000503580.1:p.Val335Leu
ENST00000678520.1:c.*693G>T	ENSP00000503361.1:n.*693G>T
ENST00000678554.1:c.889+1777G>T	ENSP00000504541.1:n.889+1777G>T
ENST00000678915.1:c.910G>T	ENSP00000504805.1:p.Val304Leu
ENST00000679224.1:c.679G>T	ENSP00000504475.1:p.Val227Leu
ENST00000227266.9:c.1042G>T	ENSP00000227266.4:p.Val348Leu
ENST00000533897.1:n.3776G>T
NM_001814.4:c.1042G>T , LRG_50t1:c.1042G>T	NP_001805.3:p.Val348Leu
NM_001814.5:c.1042G>T	NP_001805.3:p.Val348Leu
NM_001814.6:c.1042G>T MANE Select	NP_001805.4:p.Val348Leu