Canonical Allele Identifier: CA382026339

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88045574A>T (hg19) ; chr11:g.88312406A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88312406A>T , CM000673.2:g.88312406A>T	GRCh38
NC_000011.9:g.88045574A>T , CM000673.1:g.88045574A>T	GRCh37
NC_000011.8:g.87685222A>T	NCBI36
NG_007952.1:g.30368T>A , LRG_50:g.30368T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.467T>A MANE Select	ENSP00000227266.4:p.Leu156His
ENST00000527018.6:c.467T>A	ENSP00000432556.2:p.Leu156His
ENST00000533897.2:n.515T>A
ENST00000676612.1:c.*274T>A	ENSP00000504440.1:n.*274T>A
ENST00000677208.1:c.319-3088T>A	ENSP00000504347.1:n.319-3088T>A
ENST00000677661.1:c.*144T>A	ENSP00000503323.1:n.*144T>A
ENST00000677802.1:c.*144T>A	ENSP00000504115.1:n.*144T>A
ENST00000678395.1:c.423+44T>A	ENSP00000503123.1:n.423+44T>A
ENST00000678464.1:c.467T>A	ENSP00000503046.1:p.Leu156His
ENST00000678506.1:c.446+21T>A	ENSP00000503580.1:n.446+21T>A
ENST00000678520.1:c.*274T>A	ENSP00000503361.1:n.*274T>A
ENST00000678554.1:c.467T>A	ENSP00000504541.1:p.Leu156His
ENST00000678915.1:c.467T>A	ENSP00000504805.1:p.Leu156His
ENST00000679224.1:c.104T>A	ENSP00000504475.1:p.Leu35His
ENST00000227266.9:c.467T>A	ENSP00000227266.4:p.Leu156His
ENST00000527018.5:c.337T>A
ENST00000533865.5:n.489T>A
NM_001814.4:c.467T>A , LRG_50t1:c.467T>A	NP_001805.3:p.Leu156His
NM_001814.5:c.467T>A	NP_001805.3:p.Leu156His
NM_001814.6:c.467T>A MANE Select	NP_001805.4:p.Leu156His