Canonical Allele Identifier: CA409249133

Gene: CTSA

Linked Data

• MyVariant Identifiers: chr20:g.44521400T>C (hg19) ; chr20:g.45892761T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45892761T>C , CM000682.2:g.45892761T>C	GRCh38
NC_000020.10:g.44521400T>C , CM000682.1:g.44521400T>C	GRCh37
NC_000020.9:g.43954807T>C	NCBI36
NG_008291.1:g.6810T>C
NG_033108.1:g.3527A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.898T>C
ENST00000484855.4:n.531T>C
ENST00000493522.8:n.509T>C
ENST00000606066.3:n.972T>C
ENST00000606782.3:n.602T>C
ENST00000607187.3:n.898T>C
ENST00000607212.3:n.692T>C
ENST00000607814.7:n.1217T>C
ENST00000677755.2:n.901T>C
ENST00000678622.2:n.898T>C
ENST00000678691.2:n.898T>C
ENST00000678988.2:n.1520T>C
ENST00000679053.2:n.898T>C
ENST00000679343.2:n.898T>C
ENST00000684198.1:n.898T>C
ENST00000372459.7:c.481T>C	ENSP00000361537.2:p.Phe161Leu
ENST00000372484.8:c.535T>C	ENSP00000361562.3:p.Phe179Leu
ENST00000419493.3:c.481T>C	ENSP00000408533.3:p.Phe161Leu
ENST00000480961.2:n.508T>C
ENST00000484855.3:n.531T>C
ENST00000493522.7:n.509T>C
ENST00000606066.2:n.620T>C
ENST00000606394.6:c.*123T>C	ENSP00000475827.1:n.*123T>C
ENST00000606782.2:n.602T>C
ENST00000607187.2:n.412T>C
ENST00000607212.2:n.692T>C
ENST00000607482.6:c.481T>C	ENSP00000475524.2:p.Phe161Leu
ENST00000607814.6:n.1217T>C
ENST00000646241.3:c.481T>C MANE Select	ENSP00000493613.2:p.Phe161Leu
ENST00000676526.1:c.535T>C	ENSP00000504209.1:p.Phe179Leu
ENST00000676597.1:c.481T>C	ENSP00000503904.1:p.Phe161Leu
ENST00000676657.1:c.481T>C	ENSP00000504158.1:p.Phe161Leu
ENST00000676967.1:c.481T>C	ENSP00000502866.1:p.Phe161Leu
ENST00000677394.1:c.535T>C	ENSP00000504790.1:p.Phe179Leu
ENST00000677525.1:c.*304T>C	ENSP00000504197.1:n.*304T>C
ENST00000677755.1:n.901T>C
ENST00000678025.1:c.481T>C	ENSP00000503463.1:p.Phe161Leu
ENST00000678078.1:c.535T>C	ENSP00000502993.1:p.Phe179Leu
ENST00000678217.1:c.481T>C	ENSP00000504109.1:p.Phe161Leu
ENST00000678331.1:c.481T>C	ENSP00000504524.1:p.Phe161Leu
ENST00000678443.1:c.481T>C	ENSP00000504006.1:p.Phe161Leu
ENST00000678512.1:n.745T>C
ENST00000678622.1:n.526T>C
ENST00000678691.1:n.359T>C
ENST00000678939.1:c.481T>C	ENSP00000503404.1:p.Phe161Leu
ENST00000678988.1:n.1520T>C
ENST00000679053.1:n.526T>C
ENST00000679343.1:n.519T>C
ENST00000191018.9:c.481T>C	ENSP00000191018.5:p.Phe161Leu
ENST00000354880.9:c.484T>C	ENSP00000346952.4:p.Phe162Leu
ENST00000372459.6:c.481T>C	ENSP00000361537.2:p.Phe161Leu
ENST00000372484.7:c.535T>C	ENSP00000361562.3:p.Phe179Leu
ENST00000419493.2:c.10T>C	ENSP00000408533.2:p.Phe4Leu
ENST00000485627.1:n.142T>C
ENST00000606066.1:n.600T>C
ENST00000606394.5:c.*123T>C	ENSP00000475827.1:n.*123T>C
ENST00000606782.1:n.114T>C
ENST00000606788.5:c.535T>C	ENSP00000476235.1:p.Phe179Leu
NM_000308.2:c.535T>C	NP_000299.2:p.Phe179Leu
NM_000308.3:c.535T>C	NP_000299.2:p.Phe179Leu
NM_001127695.1:c.481T>C	NP_001121167.1:p.Phe161Leu
NM_001127695.2:c.481T>C	NP_001121167.1:p.Phe161Leu
NM_001167594.1:c.484T>C	NP_001161066.1:p.Phe162Leu
NM_001167594.2:c.484T>C	NP_001161066.1:p.Phe162Leu
NR_133656.1:n.1717T>C
NM_000308.4:c.481T>C MANE Select	NP_000299.3:p.Phe161Leu
NM_001127695.3:c.481T>C	NP_001121167.1:p.Phe161Leu
NM_001167594.3:c.430T>C	NP_001161066.2:p.Phe144Leu
NR_133656.2:n.526T>C