Canonical Allele Identifier: CA409254367

Gene: CTSA

Linked Data

• MyVariant Identifiers: chr20:g.44526710G>C (hg19) ; chr20:g.45898071G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45898071G>C , CM000682.2:g.45898071G>C	GRCh38
NC_000020.10:g.44526710G>C , CM000682.1:g.44526710G>C	GRCh37
NC_000020.9:g.43960117G>C	NCBI36
NG_008291.1:g.12120G>C
NG_012115.1:g.19077C>G
NG_012115.2:g.19077C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480961.3:n.5458G>C
ENST00000484855.4:n.4076G>C
ENST00000493522.8:n.1688G>C
ENST00000606066.3:n.1812G>C
ENST00000606782.3:n.1442G>C
ENST00000607187.3:n.4245G>C
ENST00000607212.3:n.1532G>C
ENST00000607814.7:n.3072G>C
ENST00000677755.2:n.1741G>C
ENST00000678622.2:n.2612G>C
ENST00000678691.2:n.3569G>C
ENST00000678988.2:n.2699G>C
ENST00000679053.2:n.4443G>C
ENST00000679343.2:n.4782G>C
ENST00000684198.1:n.1936G>C
ENST00000372459.7:c.1321G>C	ENSP00000361537.2:p.Val441Leu
ENST00000372484.8:c.1375G>C	ENSP00000361562.3:p.Val459Leu
ENST00000484855.3:n.4076G>C
ENST00000493522.7:n.1688G>C
ENST00000606066.2:n.1460G>C
ENST00000607187.2:n.3759G>C
ENST00000607212.2:n.1532G>C
ENST00000607482.6:c.1321G>C	ENSP00000475524.2:p.Val441Leu
ENST00000646241.3:c.1321G>C MANE Select	ENSP00000493613.2:p.Val441Leu
ENST00000676597.1:c.1160G>C	ENSP00000503904.1:n.1160G>C
ENST00000676967.1:c.*714G>C	ENSP00000502866.1:n.*714G>C
ENST00000677394.1:c.1375G>C	ENSP00000504790.1:p.Val459Leu
ENST00000677525.1:c.*1144G>C	ENSP00000504197.1:n.*1144G>C
ENST00000677755.1:n.1741G>C
ENST00000678025.1:c.*1385G>C	ENSP00000503463.1:n.*1385G>C
ENST00000678078.1:c.*884G>C	ENSP00000502993.1:n.*884G>C
ENST00000678217.1:c.2103G>C	ENSP00000504109.1:n.2103G>C
ENST00000678331.1:c.*39G>C	ENSP00000504524.1:n.*39G>C
ENST00000678443.1:c.1231G>C	ENSP00000504006.1:p.Val411Leu
ENST00000678512.1:n.5882G>C
ENST00000678622.1:n.2240G>C
ENST00000678691.1:n.3030G>C
ENST00000678939.1:c.*660G>C	ENSP00000503404.1:n.*660G>C
ENST00000678988.1:n.2699G>C
ENST00000679053.1:n.4071G>C
ENST00000679343.1:n.4403G>C
ENST00000191018.9:c.1321G>C	ENSP00000191018.5:p.Val441Leu
ENST00000354880.9:c.1324G>C	ENSP00000346952.4:p.Val442Leu
ENST00000372459.6:c.1321G>C	ENSP00000361537.2:p.Val441Leu
ENST00000372484.7:c.1375G>C	ENSP00000361562.3:p.Val459Leu
ENST00000484855.2:n.1691G>C
ENST00000606000.1:n.345G>C
ENST00000606788.5:c.*686G>C	ENSP00000476235.1:n.*686G>C
NM_000308.2:c.1375G>C	NP_000299.2:p.Val459Leu
NM_000308.3:c.1375G>C	NP_000299.2:p.Val459Leu
NM_001127695.1:c.1321G>C	NP_001121167.1:p.Val441Leu
NM_001127695.2:c.1321G>C	NP_001121167.1:p.Val441Leu
NM_001167594.1:c.1324G>C	NP_001161066.1:p.Val442Leu
NM_001167594.2:c.1324G>C	NP_001161066.1:p.Val442Leu
NR_133656.1:n.2564G>C
NM_000308.4:c.1321G>C MANE Select	NP_000299.3:p.Val441Leu
NM_001127695.3:c.1321G>C	NP_001121167.1:p.Val441Leu
NM_001167594.3:c.1270G>C	NP_001161066.2:p.Val424Leu
NR_133656.2:n.1373G>C