Canonical Allele Identifier: CA510751241

Gene: CTSA

Linked Data

• ClinVar Variation Id: 1613080
• ClinVar RCV Id: RCV002183104
• dbSNP Id: rs750478435
• MyVariant Identifiers: chr20:g.44520606C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45891967C>A , CM000682.2:g.45891967C>A	GRCh38
NC_000020.10:g.44520606C>A , CM000682.1:g.44520606C>A	GRCh37
NC_000020.9:g.43954013C>A	NCBI36
NG_008291.1:g.6016C>A
NG_033108.1:g.4321G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.663C>A
ENST00000484855.4:n.296C>A
ENST00000493522.8:n.274C>A
ENST00000606066.3:n.663C>A
ENST00000606782.3:n.122C>A
ENST00000607187.3:n.663C>A
ENST00000607212.3:n.457C>A
ENST00000607814.7:n.423C>A
ENST00000677755.2:n.347C>A
ENST00000678622.2:n.663C>A
ENST00000678691.2:n.663C>A
ENST00000678988.2:n.1285C>A
ENST00000679053.2:n.663C>A
ENST00000679343.2:n.663C>A
ENST00000684198.1:n.663C>A
ENST00000372459.7:c.246C>A	ENSP00000361537.2:p.Leu82=
ENST00000372484.8:c.300C>A	ENSP00000361562.3:p.Leu100=
ENST00000419493.3:c.246C>A	ENSP00000408533.3:p.Leu82=
ENST00000480961.2:n.273C>A
ENST00000484855.3:n.296C>A
ENST00000493522.7:n.274C>A
ENST00000606066.2:n.311C>A
ENST00000606394.6:c.248+205C>A	ENSP00000475827.1:n.248+205C>A
ENST00000606782.2:n.122C>A
ENST00000607187.2:n.177C>A
ENST00000607212.2:n.457C>A
ENST00000607482.6:c.246C>A	ENSP00000475524.2:p.Leu82=
ENST00000607814.6:n.423C>A
ENST00000646241.3:c.246C>A MANE Select	ENSP00000493613.2:p.Leu82=
ENST00000676526.1:c.300C>A	ENSP00000504209.1:p.Leu100=
ENST00000676597.1:c.246C>A	ENSP00000503904.1:p.Leu82=
ENST00000676657.1:c.246C>A	ENSP00000504158.1:p.Leu82=
ENST00000676967.1:c.246C>A	ENSP00000502866.1:p.Leu82=
ENST00000677394.1:c.300C>A	ENSP00000504790.1:p.Leu100=
ENST00000677525.1:c.*69C>A	ENSP00000504197.1:n.*69C>A
ENST00000677755.1:n.347C>A
ENST00000678025.1:c.246C>A	ENSP00000503463.1:p.Leu82=
ENST00000678078.1:c.300C>A	ENSP00000502993.1:p.Leu100=
ENST00000678217.1:c.246C>A	ENSP00000504109.1:p.Leu82=
ENST00000678331.1:c.246C>A	ENSP00000504524.1:p.Leu82=
ENST00000678443.1:c.246C>A	ENSP00000504006.1:p.Leu82=
ENST00000678512.1:n.436C>A
ENST00000678622.1:n.291C>A
ENST00000678691.1:n.124C>A
ENST00000678939.1:c.246C>A	ENSP00000503404.1:p.Leu82=
ENST00000678988.1:n.1285C>A
ENST00000679053.1:n.291C>A
ENST00000679343.1:n.284C>A
ENST00000191018.9:c.246C>A	ENSP00000191018.5:p.Leu82=
ENST00000354880.9:c.300C>A	ENSP00000346952.4:p.Leu100=
ENST00000372459.6:c.246C>A	ENSP00000361537.2:p.Leu82=
ENST00000372484.7:c.300C>A	ENSP00000361562.3:p.Leu100=
ENST00000606066.1:n.291C>A
ENST00000606394.5:c.248+205C>A	ENSP00000475827.1:n.248+205C>A
ENST00000606788.5:c.300C>A	ENSP00000476235.1:p.Leu100=
ENST00000607212.1:n.422C>A
ENST00000607482.5:c.246C>A	ENSP00000475524.1:p.Leu82=
ENST00000607814.5:n.424C>A
ENST00000607841.5:n.291C>A
NM_000308.2:c.300C>A	NP_000299.2:p.Leu100=
NM_000308.3:c.300C>A	NP_000299.2:p.Leu100=
NM_001127695.1:c.246C>A	NP_001121167.1:p.Leu82=
NM_001127695.2:c.246C>A	NP_001121167.1:p.Leu82=
NM_001167594.1:c.300C>A	NP_001161066.1:p.Leu100=
NM_001167594.2:c.300C>A	NP_001161066.1:p.Leu100=
NR_133656.1:n.1482C>A
NM_000308.4:c.246C>A MANE Select	NP_000299.3:p.Leu82=
NM_001127695.3:c.246C>A	NP_001121167.1:p.Leu82=
NM_001167594.3:c.246C>A	NP_001161066.2:p.Leu82=
NR_133656.2:n.291C>A