Canonical Allele Identifier: CA409249102

Gene: CTSA

Linked Data

• gnomAD v4: 20-45892749-C-T
• MyVariant Identifiers: chr20:g.44521388C>T (hg19) ; chr20:g.45892749C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45892749C>T , CM000682.2:g.45892749C>T	GRCh38
NC_000020.10:g.44521388C>T , CM000682.1:g.44521388C>T	GRCh37
NC_000020.9:g.43954795C>T	NCBI36
NG_008291.1:g.6798C>T
NG_033108.1:g.3539G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.886C>T
ENST00000484855.4:n.519C>T
ENST00000493522.8:n.497C>T
ENST00000606066.3:n.960C>T
ENST00000606782.3:n.590C>T
ENST00000607187.3:n.886C>T
ENST00000607212.3:n.680C>T
ENST00000607814.7:n.1205C>T
ENST00000677755.2:n.889C>T
ENST00000678622.2:n.886C>T
ENST00000678691.2:n.886C>T
ENST00000678988.2:n.1508C>T
ENST00000679053.2:n.886C>T
ENST00000679343.2:n.886C>T
ENST00000684198.1:n.886C>T
ENST00000372459.7:c.469C>T	ENSP00000361537.2:p.Leu157Phe
ENST00000372484.8:c.523C>T	ENSP00000361562.3:p.Leu175Phe
ENST00000419493.3:c.469C>T	ENSP00000408533.3:p.Leu157Phe
ENST00000480961.2:n.496C>T
ENST00000484855.3:n.519C>T
ENST00000493522.7:n.497C>T
ENST00000606066.2:n.608C>T
ENST00000606394.6:c.*111C>T	ENSP00000475827.1:n.*111C>T
ENST00000606782.2:n.590C>T
ENST00000607187.2:n.400C>T
ENST00000607212.2:n.680C>T
ENST00000607482.6:c.469C>T	ENSP00000475524.2:p.Leu157Phe
ENST00000607814.6:n.1205C>T
ENST00000646241.3:c.469C>T MANE Select	ENSP00000493613.2:p.Leu157Phe
ENST00000676526.1:c.523C>T	ENSP00000504209.1:p.Leu175Phe
ENST00000676597.1:c.469C>T	ENSP00000503904.1:p.Leu157Phe
ENST00000676657.1:c.469C>T	ENSP00000504158.1:p.Leu157Phe
ENST00000676967.1:c.469C>T	ENSP00000502866.1:p.Leu157Phe
ENST00000677394.1:c.523C>T	ENSP00000504790.1:p.Leu175Phe
ENST00000677525.1:c.*292C>T	ENSP00000504197.1:n.*292C>T
ENST00000677755.1:n.889C>T
ENST00000678025.1:c.469C>T	ENSP00000503463.1:p.Leu157Phe
ENST00000678078.1:c.523C>T	ENSP00000502993.1:p.Leu175Phe
ENST00000678217.1:c.469C>T	ENSP00000504109.1:p.Leu157Phe
ENST00000678331.1:c.469C>T	ENSP00000504524.1:p.Leu157Phe
ENST00000678443.1:c.469C>T	ENSP00000504006.1:p.Leu157Phe
ENST00000678512.1:n.733C>T
ENST00000678622.1:n.514C>T
ENST00000678691.1:n.347C>T
ENST00000678939.1:c.469C>T	ENSP00000503404.1:p.Leu157Phe
ENST00000678988.1:n.1508C>T
ENST00000679053.1:n.514C>T
ENST00000679343.1:n.507C>T
ENST00000191018.9:c.469C>T	ENSP00000191018.5:p.Leu157Phe
ENST00000354880.9:c.472C>T	ENSP00000346952.4:p.Leu158Phe
ENST00000372459.6:c.469C>T	ENSP00000361537.2:p.Leu157Phe
ENST00000372484.7:c.523C>T	ENSP00000361562.3:p.Leu175Phe
ENST00000485627.1:n.130C>T
ENST00000606066.1:n.588C>T
ENST00000606394.5:c.*111C>T	ENSP00000475827.1:n.*111C>T
ENST00000606782.1:n.102C>T
ENST00000606788.5:c.523C>T	ENSP00000476235.1:p.Leu175Phe
NM_000308.2:c.523C>T	NP_000299.2:p.Leu175Phe
NM_000308.3:c.523C>T	NP_000299.2:p.Leu175Phe
NM_001127695.1:c.469C>T	NP_001121167.1:p.Leu157Phe
NM_001127695.2:c.469C>T	NP_001121167.1:p.Leu157Phe
NM_001167594.1:c.472C>T	NP_001161066.1:p.Leu158Phe
NM_001167594.2:c.472C>T	NP_001161066.1:p.Leu158Phe
NR_133656.1:n.1705C>T
NM_000308.4:c.469C>T MANE Select	NP_000299.3:p.Leu157Phe
NM_001127695.3:c.469C>T	NP_001121167.1:p.Leu157Phe
NM_001167594.3:c.418C>T	NP_001161066.2:p.Leu140Phe
NR_133656.2:n.514C>T