Canonical Allele Identifier: CA1080593

Gene: CTSK

Linked Data

• ClinVar Variation Id: 1085150
• ClinVar RCV Id: RCV001402467
• dbSNP Id: rs139004720
• ExAC: 1:150779252 A / C
• gnomAD v2: 1-150779252-A-C
• gnomAD v3: 1-150806776-A-C
• gnomAD v4: 1-150806776-A-C
• MyVariant Identifiers: chr1:g.150779252A>C (hg19) ; chr1:g.150806776A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150806776A>C , CM000663.2:g.150806776A>C	GRCh38
NC_000001.10:g.150779252A>C , CM000663.1:g.150779252A>C	GRCh37
NC_000001.9:g.149045876A>C	NCBI36
NG_011848.1:g.6561T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.30T>G MANE Select	ENSP00000271651.3:p.Pro10=
ENST00000443913.2:c.207T>G	ENSP00000405083.2:p.Pro69=
ENST00000480670.2:n.2638T>G
ENST00000676680.1:c.30T>G	ENSP00000503270.1:p.Pro10=
ENST00000676716.1:c.30T>G	ENSP00000504737.1:p.Pro10=
ENST00000676751.1:c.30T>G	ENSP00000502964.1:p.Pro10=
ENST00000676824.1:c.30T>G	ENSP00000504176.1:p.Pro10=
ENST00000676966.1:c.30T>G	ENSP00000503723.1:p.Pro10=
ENST00000676970.1:c.30T>G	ENSP00000503832.1:p.Pro10=
ENST00000677330.1:n.1395T>G
ENST00000677887.1:c.72T>G	ENSP00000503876.1:p.Pro24=
ENST00000678275.1:c.30T>G	ENSP00000504796.1:p.Pro10=
ENST00000678337.1:c.66T>G	ENSP00000504759.1:p.Pro22=
ENST00000678725.1:n.1007T>G
ENST00000679090.1:n.154T>G
ENST00000679148.1:n.910T>G
ENST00000679171.1:n.1930T>G
ENST00000679260.1:c.30T>G	ENSP00000504534.1:p.Pro10=
ENST00000271651.7:c.30T>G	ENSP00000271651.3:p.Pro10=
ENST00000443913.1:c.207T>G	ENSP00000405083.1:p.Pro69=
NM_000396.3:c.30T>G	NP_000387.1:p.Pro10=
NM_000396.4:c.30T>G MANE Select	NP_000387.1:p.Pro10=