Canonical Allele Identifier: CA382026736

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88045667C>A (hg19) ; chr11:g.88312499C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88312499C>A , CM000673.2:g.88312499C>A	GRCh38
NC_000011.9:g.88045667C>A , CM000673.1:g.88045667C>A	GRCh37
NC_000011.8:g.87685315C>A	NCBI36
NG_007952.1:g.30275G>T , LRG_50:g.30275G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.374G>T MANE Select	ENSP00000227266.4:p.Trp125Leu
ENST00000527018.6:c.374G>T	ENSP00000432556.2:p.Trp125Leu
ENST00000533897.2:n.422G>T
ENST00000676612.1:c.*181G>T	ENSP00000504440.1:n.*181G>T
ENST00000677208.1:c.319-3181G>T	ENSP00000504347.1:n.319-3181G>T
ENST00000677661.1:c.*51G>T	ENSP00000503323.1:n.*51G>T
ENST00000677802.1:c.*51G>T	ENSP00000504115.1:n.*51G>T
ENST00000678395.1:c.374G>T	ENSP00000503123.1:p.Trp125Leu
ENST00000678464.1:c.374G>T	ENSP00000503046.1:p.Trp125Leu
ENST00000678506.1:c.374G>T	ENSP00000503580.1:p.Trp125Leu
ENST00000678520.1:c.*181G>T	ENSP00000503361.1:n.*181G>T
ENST00000678554.1:c.374G>T	ENSP00000504541.1:p.Trp125Leu
ENST00000678915.1:c.374G>T	ENSP00000504805.1:p.Trp125Leu
ENST00000679224.1:c.11G>T	ENSP00000504475.1:p.Trp4Leu
ENST00000227266.9:c.374G>T	ENSP00000227266.4:p.Trp125Leu
ENST00000527018.5:c.244G>T
ENST00000533865.5:n.396G>T
NM_001814.4:c.374G>T , LRG_50t1:c.374G>T	NP_001805.3:p.Trp125Leu
NM_001814.5:c.374G>T	NP_001805.3:p.Trp125Leu
NM_001814.6:c.374G>T MANE Select	NP_001805.4:p.Trp125Leu